Canonical Allele Identifier: CA343307431

Gene: ITLN1

Linked Data

• dbSNP Id: rs1447431085
• gnomAD v2: 1-160851938-T-C
• gnomAD v4: 1-160882148-T-C
• MyVariant Identifiers: chr1:g.160851938T>C (hg19) ; chr1:g.160882148T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882148T>C , CM000663.2:g.160882148T>C	GRCh38
NC_000001.10:g.160851938T>C , CM000663.1:g.160851938T>C	GRCh37
NC_000001.9:g.159118562T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.214A>G MANE Select	ENSP00000323587.3:p.Met72Val
ENST00000326245.3:c.214A>G	ENSP00000323587.3:p.Met72Val
ENST00000464077.1:n.148A>G
NM_017625.2:c.214A>G	NP_060095.2:p.Met72Val
NM_017625.3:c.214A>G MANE Select	NP_060095.2:p.Met72Val