Canonical Allele Identifier: CA494652010

Gene: ITGAL

Linked Data

• gnomAD v4: 16-30481502-C-A
• MyVariant Identifiers: chr16:g.30492823C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30481502C>A , CM000678.2:g.30481502C>A	GRCh38
NC_000016.9:g.30492823C>A , CM000678.1:g.30492823C>A	GRCh37
NC_000016.8:g.30400324C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356798.11:c.640C>A MANE Select	ENSP00000349252.5:p.Arg214=
ENST00000676652.1:c.314C>A
ENST00000677830.1:c.391C>A	ENSP00000503623.1:p.Arg131=
ENST00000678203.1:c.*384C>A	ENSP00000504379.1:n.*384C>A
ENST00000356798.10:c.640C>A	ENSP00000349252.5:p.Arg214=
ENST00000358164.9:c.391C>A	ENSP00000350886.5:p.Arg131=
ENST00000433423.2:c.153+7215C>A	ENSP00000409377.2:n.153+7215C>A
ENST00000562857.5:c.*20C>A	ENSP00000454342.1:n.*20C>A
ENST00000564118.1:c.391C>A	ENSP00000456888.1:p.Arg131=
ENST00000565348.5:n.420-2325C>A
ENST00000568926.5:c.153+7215C>A	ENSP00000457785.1:n.153+7215C>A
NM_001114380.1:c.391C>A	NP_001107852.1:p.Arg131=
NM_002209.2:c.640C>A	NP_002200.2:p.Arg214=
XM_005255313.1:c.640C>A	XP_005255370.1:p.Arg214=
XM_006721044.1:c.391C>A	XP_006721107.1:p.Arg131=
XM_011545849.1:c.352C>A	XP_011544151.1:p.Arg118=
XR_950794.1:n.736C>A
XM_024450262.1:c.352C>A	XP_024306030.1:p.Arg118=
NM_001114380.2:c.391C>A	NP_001107852.1:p.Arg131=
NM_002209.3:c.640C>A MANE Select	NP_002200.2:p.Arg214=