Canonical Allele Identifier: CA343307045
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1172807657
gnomAD v2: 1-160851755-C-T
gnomAD v4: 1-160881965-C-T
MyVariant Identifiers: chr1:g.160851755C>T (hg19) chr1:g.160881965C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881965C>T , CM000663.2:g.160881965C>T GRCh38
NC_000001.10:g.160851755C>T , CM000663.1:g.160851755C>T GRCh37
NC_000001.9:g.159118379C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000326245.4:c.397G>A MANE Select ENSP00000323587.3:p.Asp133Asn
ENST00000326245.3:c.397G>A ENSP00000323587.3:p.Asp133Asn
ENST00000464077.1:n.331G>A
NM_017625.2:c.397G>A NP_060095.2:p.Asp133Asn
NM_017625.3:c.397G>A MANE Select NP_060095.2:p.Asp133Asn
Search 100 bp 5'
Search 100 bp 3'