Canonical Allele Identifier: CA395564199

Gene: ITGAL

Linked Data

• MyVariant Identifiers: chr16:g.30492835G>C (hg19) ; chr16:g.30481514G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30481514G>C , CM000678.2:g.30481514G>C	GRCh38
NC_000016.9:g.30492835G>C , CM000678.1:g.30492835G>C	GRCh37
NC_000016.8:g.30400336G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356798.11:c.652G>C MANE Select	ENSP00000349252.5:p.Asp218His
ENST00000676652.1:c.326G>C
ENST00000677830.1:c.403G>C	ENSP00000503623.1:p.Asp135His
ENST00000678203.1:c.*396G>C	ENSP00000504379.1:n.*396G>C
ENST00000356798.10:c.652G>C	ENSP00000349252.5:p.Asp218His
ENST00000358164.9:c.403G>C	ENSP00000350886.5:p.Asp135His
ENST00000433423.2:c.153+7227G>C	ENSP00000409377.2:n.153+7227G>C
ENST00000562857.5:c.*32G>C	ENSP00000454342.1:n.*32G>C
ENST00000564118.1:c.403G>C	ENSP00000456888.1:p.Asp135His
ENST00000565348.5:n.420-2313G>C
ENST00000568926.5:c.153+7227G>C	ENSP00000457785.1:n.153+7227G>C
NM_001114380.1:c.403G>C	NP_001107852.1:p.Asp135His
NM_002209.2:c.652G>C	NP_002200.2:p.Asp218His
XM_005255313.1:c.652G>C	XP_005255370.1:p.Asp218His
XM_006721044.1:c.403G>C	XP_006721107.1:p.Asp135His
XM_011545849.1:c.364G>C	XP_011544151.1:p.Asp122His
XR_950794.1:n.748G>C
XM_024450262.1:c.364G>C	XP_024306030.1:p.Asp122His
NM_001114380.2:c.403G>C	NP_001107852.1:p.Asp135His
NM_002209.3:c.652G>C MANE Select	NP_002200.2:p.Asp218His