Canonical Allele Identifier: CA343307388

Gene: ITLN1

Linked Data

• COSMIC: COSM334199
• MyVariant Identifiers: chr1:g.160851915C>A (hg19) ; chr1:g.160882125C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882125C>A , CM000663.2:g.160882125C>A	GRCh38
NC_000001.10:g.160851915C>A , CM000663.1:g.160851915C>A	GRCh37
NC_000001.9:g.159118539C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.237G>T MANE Select	ENSP00000323587.3:p.Trp79Cys
ENST00000326245.3:c.237G>T	ENSP00000323587.3:p.Trp79Cys
ENST00000464077.1:n.171G>T
NM_017625.2:c.237G>T	NP_060095.2:p.Trp79Cys
NM_017625.3:c.237G>T MANE Select	NP_060095.2:p.Trp79Cys