Canonical Allele Identifier: CA5285269

Gene: ABL1

Linked Data

• ClinVar Variation Id: 3131779
• ClinVar RCV Id: RCV004418638
• dbSNP Id: rs572239604
• ExAC: 9:133738292 A / G
• gnomAD v2: 9-133738292-A-G
• gnomAD v3: 9-130862905-A-G
• gnomAD v4: 9-130862905-A-G
• COSMIC: COSM4371082 ; COSM4371083 ; COSM4371084
• MyVariant Identifiers: chr9:g.133738292A>G (hg19) ; chr9:g.130862905A>G (hg38)

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