Canonical Allele Identifier: CA31617618

Gene: ITLN1

Linked Data

• dbSNP Id: rs528286113
• gnomAD v3: 1-160882352-G-A
• gnomAD v4: 1-160882352-G-A
• MyVariant Identifiers: chr1:g.160852142G>A (hg19) ; chr1:g.160882352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882352G>A , CM000663.2:g.160882352G>A	GRCh38
NC_000001.10:g.160852142G>A , CM000663.1:g.160852142G>A	GRCh37
NC_000001.9:g.159118766G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.158-148C>T MANE Select	ENSP00000323587.3:n.158-148C>T
ENST00000326245.3:c.158-148C>T	ENSP00000323587.3:n.158-148C>T
NM_017625.2:c.158-148C>T	NP_060095.2:n.158-148C>T
NM_017625.3:c.158-148C>T MANE Select	NP_060095.2:n.158-148C>T