Canonical Allele Identifier: CA5285248

Gene: ABL1

Linked Data

• ClinVar Variation Id: 2967178
• ClinVar RCV Id: RCV003823856
• dbSNP Id: rs779645963
• ExAC: 9:133738161 C / T
• gnomAD v2: 9-133738161-C-T
• gnomAD v3: 9-130862774-C-T
• gnomAD v4: 9-130862774-C-T
• MyVariant Identifiers: chr9:g.133738161C>T (hg19) ; chr9:g.130862774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130862774C>T , CM000671.2:g.130862774C>T	GRCh38
NC_000009.11:g.133738161C>T , CM000671.1:g.133738161C>T	GRCh37
NC_000009.10:g.132727982C>T	NCBI36
NG_012034.1:g.153894C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372348.9:c.618C>T	ENSP00000361423.2:p.Ser206=
ENST00000318560.6:c.561C>T MANE Select	ENSP00000323315.5:p.Ser187=
ENST00000372348.7:c.618C>T	ENSP00000361423.2:p.Ser206=
ENST00000318560.5:c.561C>T	ENSP00000323315.5:p.Ser187=
ENST00000372348.6:c.618C>T	ENSP00000361423.2:p.Ser206=
NM_005157.5:c.561C>T	NP_005148.2:p.Ser187=
NM_007313.2:c.618C>T	NP_009297.2:p.Ser206=
NM_005157.6:c.561C>T MANE Select	NP_005148.2:p.Ser187=
NM_007313.3:c.618C>T	NP_009297.2:p.Ser206=