Canonical Allele Identifier: CA375262830

Gene: ABL1

Linked Data

• ClinVar Variation Id: 917884
• ClinVar RCV Id: RCV001175161
• dbSNP Id: rs1831097846
• MyVariant Identifiers: chr9:g.133738289C>T (hg19) ; chr9:g.130862902C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130862902C>T , CM000671.2:g.130862902C>T	GRCh38
NC_000009.11:g.133738289C>T , CM000671.1:g.133738289C>T	GRCh37
NC_000009.10:g.132728110C>T	NCBI36
NG_012034.1:g.154022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372348.9:c.746C>T	ENSP00000361423.2:p.Pro249Leu
ENST00000318560.6:c.689C>T MANE Select	ENSP00000323315.5:p.Pro230Leu
ENST00000372348.7:c.746C>T	ENSP00000361423.2:p.Pro249Leu
ENST00000318560.5:c.689C>T	ENSP00000323315.5:p.Pro230Leu
ENST00000372348.6:c.746C>T	ENSP00000361423.2:p.Pro249Leu
NM_005157.5:c.689C>T	NP_005148.2:p.Pro230Leu
NM_007313.2:c.746C>T	NP_009297.2:p.Pro249Leu
NM_005157.6:c.689C>T MANE Select	NP_005148.2:p.Pro230Leu
NM_007313.3:c.746C>T	NP_009297.2:p.Pro249Leu