Canonical Allele Identifier: CA16602547
Gene: ABL1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130862962G>A
GRCh37 chr9:g.133738349G>A
Revel Score:
ENST00000444970 0.568
ENST00000372348 0.568
ENST00000318560 (MANE Select) 0.568
ClinVar Allele:
362965
ClinVar RCV:
RCV000430260
ClinVar Variation:
376086
dbSNP:
121913453
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130862962G>A , CM000671.2:g.130862962G>A GRCh38
NC_000009.11:g.133738349G>A , CM000671.1:g.133738349G>A GRCh37
NC_000009.10:g.132728170G>A NCBI36
NG_012034.1:g.154082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372348.9:c.806G>A ENSP00000361423.2:p.Gly269Glu
ENST00000318560.6:c.749G>A MANE Select ENSP00000323315.5:p.Gly250Glu
ENST00000372348.7:c.806G>A ENSP00000361423.2:p.Gly269Glu
ENST00000318560.5:c.749G>A ENSP00000323315.5:p.Gly250Glu
ENST00000372348.6:c.806G>A ENSP00000361423.2:p.Gly269Glu
NM_005157.5:c.749G>A NP_005148.2:p.Gly250Glu
NM_007313.2:c.806G>A NP_009297.2:p.Gly269Glu
NM_005157.6:c.749G>A MANE Select NP_005148.2:p.Gly250Glu
NM_007313.3:c.806G>A NP_009297.2:p.Gly269Glu
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