Canonical Allele Identifier: CA494652015

Gene: ITGAL

Linked Data

• gnomAD v4: 16-30481510-C-T
• MyVariant Identifiers: chr16:g.30492831C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30481510C>T , CM000678.2:g.30481510C>T	GRCh38
NC_000016.9:g.30492831C>T , CM000678.1:g.30492831C>T	GRCh37
NC_000016.8:g.30400332C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356798.11:c.648C>T MANE Select	ENSP00000349252.5:p.Asp216=
ENST00000676652.1:c.322C>T
ENST00000677830.1:c.399C>T	ENSP00000503623.1:p.Asp133=
ENST00000678203.1:c.*392C>T	ENSP00000504379.1:n.*392C>T
ENST00000356798.10:c.648C>T	ENSP00000349252.5:p.Asp216=
ENST00000358164.9:c.399C>T	ENSP00000350886.5:p.Asp133=
ENST00000433423.2:c.153+7223C>T	ENSP00000409377.2:n.153+7223C>T
ENST00000562857.5:c.*28C>T	ENSP00000454342.1:n.*28C>T
ENST00000564118.1:c.399C>T	ENSP00000456888.1:p.Asp133=
ENST00000565348.5:n.420-2317C>T
ENST00000568926.5:c.153+7223C>T	ENSP00000457785.1:n.153+7223C>T
NM_001114380.1:c.399C>T	NP_001107852.1:p.Asp133=
NM_002209.2:c.648C>T	NP_002200.2:p.Asp216=
XM_005255313.1:c.648C>T	XP_005255370.1:p.Asp216=
XM_006721044.1:c.399C>T	XP_006721107.1:p.Asp133=
XM_011545849.1:c.360C>T	XP_011544151.1:p.Asp120=
XR_950794.1:n.744C>T
XM_024450262.1:c.360C>T	XP_024306030.1:p.Asp120=
NM_001114380.2:c.399C>T	NP_001107852.1:p.Asp133=
NM_002209.3:c.648C>T MANE Select	NP_002200.2:p.Asp216=