Canonical Allele Identifier: CA343307213
Gene: ITLN1 HGNC NCBI

Linked Data

gnomAD v4: 1-160882043-T-A
MyVariant Identifiers: chr1:g.160851833T>A (hg19) chr1:g.160882043T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882043T>A , CM000663.2:g.160882043T>A GRCh38
NC_000001.10:g.160851833T>A , CM000663.1:g.160851833T>A GRCh37
NC_000001.9:g.159118457T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.319A>T MANE Select ENSP00000323587.3:p.Lys107Ter
ENST00000326245.3:c.319A>T ENSP00000323587.3:p.Lys107Ter
ENST00000464077.1:n.253A>T
NM_017625.2:c.319A>T NP_060095.2:p.Lys107Ter
NM_017625.3:c.319A>T MANE Select NP_060095.2:p.Lys107Ter
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