Canonical Allele Identifier: CA5285269
Gene: ABL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3131779
ClinVar RCV Id: RCV004418638
dbSNP Id: rs572239604

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130862905A>G , CM000671.2:g.130862905A>G GRCh38
NC_000009.11:g.133738292A>G , CM000671.1:g.133738292A>G GRCh37
NC_000009.10:g.132728113A>G NCBI36
NG_012034.1:g.154025A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372348.9:c.749A>G ENSP00000361423.2:p.Asn250Ser
ENST00000318560.6:c.692A>G MANE Select ENSP00000323315.5:p.Asn231Ser
ENST00000372348.7:c.749A>G ENSP00000361423.2:p.Asn250Ser
ENST00000318560.5:c.692A>G ENSP00000323315.5:p.Asn231Ser
ENST00000372348.6:c.749A>G ENSP00000361423.2:p.Asn250Ser
NM_005157.5:c.692A>G NP_005148.2:p.Asn231Ser
NM_007313.2:c.749A>G NP_009297.2:p.Asn250Ser
NM_005157.6:c.692A>G MANE Select NP_005148.2:p.Asn231Ser
NM_007313.3:c.749A>G NP_009297.2:p.Asn250Ser