Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA343307504

Gene: ITLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.160851969C>G (hg19) chr1:g.160882179C>G (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882179C>G , CM000663.2:g.160882179C>G	GRCh38
NC_000001.10:g.160851969C>G , CM000663.1:g.160851969C>G	GRCh37
NC_000001.9:g.159118593C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326245.4:c.183G>C MANE Select	ENSP00000323587.3:p.Glu61Asp
ENST00000326245.3:c.183G>C	ENSP00000323587.3:p.Glu61Asp
ENST00000464077.1:n.117G>C
NM_017625.2:c.183G>C	NP_060095.2:p.Glu61Asp
NM_017625.3:c.183G>C MANE Select	NP_060095.2:p.Glu61Asp

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