Canonical Allele Identifier: CA16602580
Gene: ABL1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130873027T>A
GRCh37 chr9:g.133748414T>A
Revel Score:
ENST00000444970 0.618
ENST00000372348 0.618
ENST00000318560 (MANE Select) 0.618
ClinVar Allele:
363001
ClinVar RCV:
RCV000424157
ClinVar Variation:
376122
dbSNP:
121913452
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130873027T>A , CM000671.2:g.130873027T>A GRCh38
NC_000009.11:g.133748414T>A , CM000671.1:g.133748414T>A GRCh37
NC_000009.10:g.132738235T>A NCBI36
NG_012034.1:g.164147T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372348.9:c.1132T>A ENSP00000361423.2:p.Phe378Ile
ENST00000318560.6:c.1075T>A MANE Select ENSP00000323315.5:p.Phe359Ile
ENST00000372348.7:c.1132T>A ENSP00000361423.2:p.Phe378Ile
ENST00000318560.5:c.1075T>A ENSP00000323315.5:p.Phe359Ile
ENST00000372348.6:c.1132T>A ENSP00000361423.2:p.Phe378Ile
NM_005157.5:c.1075T>A NP_005148.2:p.Phe359Ile
NM_007313.2:c.1132T>A NP_009297.2:p.Phe378Ile
NM_005157.6:c.1075T>A MANE Select NP_005148.2:p.Phe359Ile
NM_007313.3:c.1132T>A NP_009297.2:p.Phe378Ile
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