Canonical Allele Identifier: CA343307139

Gene: ITLN1

Linked Data

• dbSNP Id: rs1226450215
• gnomAD v2: 1-160851799-G-T
• gnomAD v4: 1-160882009-G-T
• MyVariant Identifiers: chr1:g.160851799G>T (hg19) ; chr1:g.160882009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882009G>T , CM000663.2:g.160882009G>T	GRCh38
NC_000001.10:g.160851799G>T , CM000663.1:g.160851799G>T	GRCh37
NC_000001.9:g.159118423G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.353C>A MANE Select	ENSP00000323587.3:p.Ala118Asp
ENST00000326245.3:c.353C>A	ENSP00000323587.3:p.Ala118Asp
ENST00000464077.1:n.287C>A
NM_017625.2:c.353C>A	NP_060095.2:p.Ala118Asp
NM_017625.3:c.353C>A MANE Select	NP_060095.2:p.Ala118Asp