Canonical Allele Identifier: CA1202727

Gene: ITLN1

Linked Data

• dbSNP Id: rs755166405
• ExAC: 1:160851951 C / T
• gnomAD v2: 1-160851951-C-T
• gnomAD v4: 1-160882161-C-T
• MyVariant Identifiers: chr1:g.160851951C>T (hg19) ; chr1:g.160882161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882161C>T , CM000663.2:g.160882161C>T	GRCh38
NC_000001.10:g.160851951C>T , CM000663.1:g.160851951C>T	GRCh37
NC_000001.9:g.159118575C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326245.4:c.201G>A MANE Select	ENSP00000323587.3:p.Gln67=
ENST00000326245.3:c.201G>A	ENSP00000323587.3:p.Gln67=
ENST00000464077.1:n.135G>A
NM_017625.2:c.201G>A	NP_060095.2:p.Gln67=
NM_017625.3:c.201G>A MANE Select	NP_060095.2:p.Gln67=