Canonical Allele Identifier: CA156557

Gene: ABL1

Linked Data

• ClinVar Variation Id: 133449
• ClinVar RCV Id: RCV000119953 ; RCV001854592
• dbSNP Id: rs587778016
• ExAC: 9:133730221 A / G
• gnomAD v2: 9-133730221-A-G
• gnomAD v3: 9-130854834-A-G
• gnomAD v4: 9-130854834-A-G
• MyVariant Identifiers: chr9:g.133730221A>G (hg19) ; chr9:g.130854834A>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130854834A>G , CM000671.2:g.130854834A>G	GRCh38
NC_000009.11:g.133730221A>G , CM000671.1:g.133730221A>G	GRCh37
NC_000009.10:g.132720042A>G	NCBI36
NG_012034.1:g.145954A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372348.9:c.344A>G	ENSP00000361423.2:p.Asn115Ser
ENST00000318560.6:c.287A>G MANE Select	ENSP00000323315.5:p.Asn96Ser
ENST00000372348.7:c.344A>G	ENSP00000361423.2:p.Asn115Ser
ENST00000318560.5:c.287A>G	ENSP00000323315.5:p.Asn96Ser
ENST00000372348.6:c.344A>G	ENSP00000361423.2:p.Asn115Ser
NM_005157.5:c.287A>G	NP_005148.2:p.Asn96Ser
NM_007313.2:c.344A>G	NP_009297.2:p.Asn115Ser
NM_005157.6:c.287A>G MANE Select	NP_005148.2:p.Asn96Ser
NM_007313.3:c.344A>G	NP_009297.2:p.Asn115Ser