Canonical Allele Identifier: CA527133869

Gene: ITLN1

Linked Data

• dbSNP Id: rs1391127318
• gnomAD v2: 1-160851618-T-C
• gnomAD v3: 1-160881828-T-C
• gnomAD v4: 1-160881828-T-C
• MyVariant Identifiers: chr1:g.160851618T>C (hg19) ; chr1:g.160881828T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160881828T>C , CM000663.2:g.160881828T>C	GRCh38
NC_000001.10:g.160851618T>C , CM000663.1:g.160851618T>C	GRCh37
NC_000001.9:g.159118242T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326245.4:c.405+129A>G MANE Select	ENSP00000323587.3:n.405+129A>G
ENST00000326245.3:c.405+129A>G	ENSP00000323587.3:n.405+129A>G
ENST00000464077.1:n.339+129A>G
NM_017625.2:c.405+129A>G	NP_060095.2:n.405+129A>G
NM_017625.3:c.405+129A>G MANE Select	NP_060095.2:n.405+129A>G