ClinVar

NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)

Gene:

RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 38565075 (on Assembly GRCh38)
• Chr19: 39055715 (on Assembly GRCh37)

Preferred name:

NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)

HGVS:

• NC_000019.10:g.38565075C>T
• NG_008866.1:g.136376C>T
• NM_000540.3:c.12741C>TMANE SELECT
• NM_001042723.2:c.12726C>T
• NP_000531.2:p.Ala4247=
• NP_000531.2:p.Ala4247=
• NP_001036188.1:p.Ala4242=
• LRG_766t1:c.12741C>T
• LRG_766:g.136376C>T
• LRG_766p1:p.Ala4247=
• NC_000019.9:g.39055715C>T
• NM_000540.2:c.12741C>T
• NP_000531.2:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs80039127

NCBI 1000 Genomes Browser:

rs80039127

Molecular consequence:

• NM_000540.3:c.12741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042723.2:c.12726C>T - synonymous variant - [Sequence Ontology: SO:0001819]