Canonical Allele Identifier: CA156554

Gene: ABL1

Linked Data

• ClinVar Variation Id: 133448
• ClinVar RCV Id: RCV000119952 ; RCV000897146 ; RCV004529994
• dbSNP Id: rs61741003
• ExAC: 9:133729499 G / A
• gnomAD v2: 9-133729499-G-A
• gnomAD v3: 9-130854112-G-A
• gnomAD v4: 9-130854112-G-A
• MyVariant Identifiers: chr9:g.133729499G>A (hg19) ; chr9:g.130854112G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130854112G>A , CM000671.2:g.130854112G>A	GRCh38
NC_000009.11:g.133729499G>A , CM000671.1:g.133729499G>A	GRCh37
NC_000009.10:g.132719320G>A	NCBI36
NG_012034.1:g.145232G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372348.9:c.185G>A	ENSP00000361423.2:p.Ser62Asn
ENST00000318560.6:c.128G>A MANE Select	ENSP00000323315.5:p.Ser43Asn
ENST00000372348.7:c.185G>A	ENSP00000361423.2:p.Ser62Asn
ENST00000318560.5:c.128G>A	ENSP00000323315.5:p.Ser43Asn
ENST00000372348.6:c.185G>A	ENSP00000361423.2:p.Ser62Asn
ENST00000393293.4:c.182G>A	ENSP00000376971.4:p.Ser61Asn
NM_005157.5:c.128G>A	NP_005148.2:p.Ser43Asn
NM_007313.2:c.185G>A	NP_009297.2:p.Ser62Asn
NM_005157.6:c.128G>A MANE Select	NP_005148.2:p.Ser43Asn
NM_007313.3:c.185G>A	NP_009297.2:p.Ser62Asn