ClinVar

NM_005157.6(ABL1):c.929C>T (p.Pro310Leu)

Gene:

ABL1:ABL proto-oncogene 1, non-receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.12

Genomic location:

• Chr9: 130872881 (on Assembly GRCh38)
• Chr9: 133748268 (on Assembly GRCh37)

Preferred name:

NM_005157.6(ABL1):c.929C>T (p.Pro310Leu)

HGVS:

• NC_000009.12:g.130872881C>T
• NG_012034.1:g.164001C>T
• NM_005157.6:c.929C>TMANE SELECT
• NM_007313.3:c.986C>T
• NP_005148.2:p.Pro310Leu
• NP_009297.2:p.Pro329Leu
• LRG_769t1:c.929C>T
• LRG_769t2:c.986C>T
• LRG_769:g.164001C>T
• LRG_769p1:p.Pro310Leu
• LRG_769p2:p.Pro329Leu
• NC_000009.11:g.133748268C>T
• NM_005157.5:c.929C>T

This HGVS expression did not pass validation

Protein change:

P310L

Links:

dbSNP: rs1831276610

NCBI 1000 Genomes Browser:

rs1831276610

Molecular consequence:

• NM_005157.6:c.929C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007313.3:c.986C>T - missense variant - [Sequence Ontology: SO:0001583]