ClinVar

NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp)

Genes:

AP4B1-AS1:AP4B1 antisense RNA 1 [Gene - HGNC]
AP4B1:adaptor related protein complex 4 subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.2

Genomic location:

• Chr1: 113900371 (on Assembly GRCh38)
• Chr1: 114442993 (on Assembly GRCh37)

Preferred name:

NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp)

HGVS:

• NC_000001.11:g.113900371G>T
• NG_031901.1:g.9749C>A
• NG_057565.1:g.753G>T
• NM_001253852.3:c.647C>AMANE SELECT
• NM_001253853.3:c.350C>A
• NM_001308312.2:c.143C>A
• NM_006594.5:c.647C>A
• NP_001240781.1:p.Ala216Asp
• NP_001240782.1:p.Ala117Asp
• NP_001295241.1:p.Ala48Asp
• NP_006585.2:p.Ala216Asp
• LRG_1219:g.753G>T
• NC_000001.10:g.114442993G>T
• NM_006594.2:c.647C>A
• NM_006594.3:c.647C>A
• NM_006594.4:c.647C>A
• NR_037864.1:n.868G>T
• NR_125965.1:n.1036G>T

This HGVS expression did not pass validation

Protein change:

A117D

Links:

dbSNP: rs752781534

NCBI 1000 Genomes Browser:

rs752781534

Molecular consequence:

• NM_001253852.3:c.647C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001253853.3:c.350C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308312.2:c.143C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006594.5:c.647C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_037864.1:n.868G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_125965.1:n.1036G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]