Canonical Allele Identifier: CA122575
Gene: ABL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12624
ClinVar RCV Id: RCV000013459 RCV000432136 RCV000442565
dbSNP Id: rs121913459
COSMIC: COSM12560 COSM6023438 COSM6023439
MyVariant Identifiers: chr9:g.133748283C>T (hg19) chr9:g.130872896C>T (hg38)
CIViC: CA122575
PubMed: PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 PMID:12130516 PMID:12399961 PMID:12623848 PMID:14745431 PMID:15194504 PMID:20367437 PMID:20537386 PMID:20963643 PMID:21562040 PMID:21762985 PMID:21872826 PMID:21895409 PMID:22306673 PMID:22772060 PMID:22870928 PMID:23355941 PMID:23540562 PMID:23676790 PMID:24236021 PMID:25157968 PMID:25686603
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130872896C>T , CM000671.2:g.130872896C>T GRCh38
NC_000009.11:g.133748283C>T , CM000671.1:g.133748283C>T GRCh37
NC_000009.10:g.132738104C>T NCBI36
NG_012034.1:g.164016C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372348.9:c.1001C>T ENSP00000361423.2:p.Thr334Ile
ENST00000318560.6:c.944C>T MANE Select ENSP00000323315.5:p.Thr315Ile
ENST00000372348.7:c.1001C>T ENSP00000361423.2:p.Thr334Ile
ENST00000318560.5:c.944C>T ENSP00000323315.5:p.Thr315Ile
ENST00000372348.6:c.1001C>T ENSP00000361423.2:p.Thr334Ile
NM_005157.5:c.944C>T NP_005148.2:p.Thr315Ile
NM_007313.2:c.1001C>T NP_009297.2:p.Thr334Ile
NM_005157.6:c.944C>T MANE Select NP_005148.2:p.Thr315Ile
NM_007313.3:c.1001C>T NP_009297.2:p.Thr334Ile
Search 100 bp 5'
Search 100 bp 3'