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: CA343307514

Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1471926073

gnomAD v4: 1-160882184-T-C

MyVariant Identifiers: chr1:g.160851974T>C (hg19) chr1:g.160882184T>C (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160882184T>C , CM000663.2:g.160882184T>C	GRCh38
NC_000001.10:g.160851974T>C , CM000663.1:g.160851974T>C	GRCh37
NC_000001.9:g.159118598T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326245.4:c.178A>G MANE Select	ENSP00000323587.3:p.Thr60Ala
ENST00000326245.3:c.178A>G	ENSP00000323587.3:p.Thr60Ala
ENST00000464077.1:n.112A>G
NM_017625.2:c.178A>G	NP_060095.2:p.Thr60Ala
NM_017625.3:c.178A>G MANE Select	NP_060095.2:p.Thr60Ala

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