Canonical Allele Identifier: CA395564149

Gene: ITGAL

Linked Data

• MyVariant Identifiers: chr16:g.30492829G>A (hg19) ; chr16:g.30481508G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30481508G>A , CM000678.2:g.30481508G>A	GRCh38
NC_000016.9:g.30492829G>A , CM000678.1:g.30492829G>A	GRCh37
NC_000016.8:g.30400330G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356798.11:c.646G>A MANE Select	ENSP00000349252.5:p.Asp216Asn
ENST00000676652.1:c.320G>A
ENST00000677830.1:c.397G>A	ENSP00000503623.1:p.Asp133Asn
ENST00000678203.1:c.*390G>A	ENSP00000504379.1:n.*390G>A
ENST00000356798.10:c.646G>A	ENSP00000349252.5:p.Asp216Asn
ENST00000358164.9:c.397G>A	ENSP00000350886.5:p.Asp133Asn
ENST00000433423.2:c.153+7221G>A	ENSP00000409377.2:n.153+7221G>A
ENST00000562857.5:c.*26G>A	ENSP00000454342.1:n.*26G>A
ENST00000564118.1:c.397G>A	ENSP00000456888.1:p.Asp133Asn
ENST00000565348.5:n.420-2319G>A
ENST00000568926.5:c.153+7221G>A	ENSP00000457785.1:n.153+7221G>A
NM_001114380.1:c.397G>A	NP_001107852.1:p.Asp133Asn
NM_002209.2:c.646G>A	NP_002200.2:p.Asp216Asn
XM_005255313.1:c.646G>A	XP_005255370.1:p.Asp216Asn
XM_006721044.1:c.397G>A	XP_006721107.1:p.Asp133Asn
XM_011545849.1:c.358G>A	XP_011544151.1:p.Asp120Asn
XR_950794.1:n.742G>A
XM_024450262.1:c.358G>A	XP_024306030.1:p.Asp120Asn
NM_001114380.2:c.397G>A	NP_001107852.1:p.Asp133Asn
NM_002209.3:c.646G>A MANE Select	NP_002200.2:p.Asp216Asn