Canonical Allele Identifier: CA5285283

Gene: ABL1

Linked Data

• ClinVar Variation Id: 1567710
• ClinVar RCV Id: RCV002214956
• dbSNP Id: rs148722778
• ExAC: 9:133738407 C / T
• gnomAD v2: 9-133738407-C-T
• gnomAD v3: 9-130863020-C-T
• gnomAD v4: 9-130863020-C-T
• MyVariant Identifiers: chr9:g.133738407C>T (hg19) ; chr9:g.130863020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130863020C>T , CM000671.2:g.130863020C>T	GRCh38
NC_000009.11:g.133738407C>T , CM000671.1:g.133738407C>T	GRCh37
NC_000009.10:g.132728228C>T	NCBI36
NG_012034.1:g.154140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372348.9:c.864C>T	ENSP00000361423.2:p.Ala288=
ENST00000318560.6:c.807C>T MANE Select	ENSP00000323315.5:p.Ala269=
ENST00000372348.7:c.864C>T	ENSP00000361423.2:p.Ala288=
ENST00000318560.5:c.807C>T	ENSP00000323315.5:p.Ala269=
ENST00000372348.6:c.864C>T	ENSP00000361423.2:p.Ala288=
NM_005157.5:c.807C>T	NP_005148.2:p.Ala269=
NM_007313.2:c.864C>T	NP_009297.2:p.Ala288=
NM_005157.6:c.807C>T MANE Select	NP_005148.2:p.Ala269=
NM_007313.3:c.864C>T	NP_009297.2:p.Ala288=