Canonical Allele Identifier: CA1202678
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs201482954
ExAC: 1:160851763 G / A
gnomAD v2: 1-160851763-G-A
gnomAD v3: 1-160881973-G-A
gnomAD v4: 1-160881973-G-A
MyVariant Identifiers: chr1:g.160851763G>A (hg19) chr1:g.160881973G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881973G>A , CM000663.2:g.160881973G>A GRCh38
NC_000001.10:g.160851763G>A , CM000663.1:g.160851763G>A GRCh37
NC_000001.9:g.159118387G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000326245.4:c.389C>T MANE Select ENSP00000323587.3:p.Thr130Met
ENST00000326245.3:c.389C>T ENSP00000323587.3:p.Thr130Met
ENST00000464077.1:n.323C>T
NM_017625.2:c.389C>T NP_060095.2:p.Thr130Met
NM_017625.3:c.389C>T MANE Select NP_060095.2:p.Thr130Met
Search 100 bp 5'
Search 100 bp 3'