Canonical Allele Identifier: CA343307188
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1401210748
gnomAD v3: 1-160882031-G-A
gnomAD v4: 1-160882031-G-A
COSMIC: COSM5522927
MyVariant Identifiers: chr1:g.160851821G>A (hg19) chr1:g.160882031G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882031G>A , CM000663.2:g.160882031G>A GRCh38
NC_000001.10:g.160851821G>A , CM000663.1:g.160851821G>A GRCh37
NC_000001.9:g.159118445G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.331C>T MANE Select ENSP00000323587.3:p.Pro111Ser
ENST00000326245.3:c.331C>T ENSP00000323587.3:p.Pro111Ser
ENST00000464077.1:n.265C>T
NM_017625.2:c.331C>T NP_060095.2:p.Pro111Ser
NM_017625.3:c.331C>T MANE Select NP_060095.2:p.Pro111Ser
Search 100 bp 5'
Search 100 bp 3'