Canonical Allele Identifier: CA343307379
Gene: ITLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882120A>T , CM000663.2:g.160882120A>T GRCh38
NC_000001.10:g.160851910A>T , CM000663.1:g.160851910A>T GRCh37
NC_000001.9:g.159118534A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.242T>A MANE Select ENSP00000323587.3:p.Leu81Gln
ENST00000326245.3:c.242T>A ENSP00000323587.3:p.Leu81Gln
ENST00000464077.1:n.176T>A
NM_017625.2:c.242T>A NP_060095.2:p.Leu81Gln
NM_017625.3:c.242T>A MANE Select NP_060095.2:p.Leu81Gln