Canonical Allele Identifier: CA343307312

Gene: ITLN1

Linked Data

• dbSNP Id: rs754348725
• gnomAD v2: 1-160851880-C-A
• gnomAD v4: 1-160882090-C-A
• MyVariant Identifiers: chr1:g.160851880C>A (hg19) ; chr1:g.160882090C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882090C>A , CM000663.2:g.160882090C>A	GRCh38
NC_000001.10:g.160851880C>A , CM000663.1:g.160851880C>A	GRCh37
NC_000001.9:g.159118504C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.272G>T MANE Select	ENSP00000323587.3:p.Arg91Leu
ENST00000326245.3:c.272G>T	ENSP00000323587.3:p.Arg91Leu
ENST00000464077.1:n.206G>T
NM_017625.2:c.272G>T	NP_060095.2:p.Arg91Leu
NM_017625.3:c.272G>T MANE Select	NP_060095.2:p.Arg91Leu