Allele Registry

Canonical Allele Identifier: CA12679366

Gene: CNPY1 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN20417416 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr7:g.155492440T>G

GRCh37 chr7:g.155285135T>G

Linked Data - Sequence & Population

gnomAD v2:

7:155285135 T / G

gnomAD v3:

7:155492440 T / G

gnomAD v4:

chr7-155492440-T-G

Joint Max Group AF 0.80108577 (NFE)

Genomes Max Group AF 0.80108577 (NFE)

Linked Data - NCBI & NCI

dbSNP:

1861960

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155492440T>G , CM000669.2:g.155492440T>G	GRCh38
NC_000007.13:g.155285135T>G , CM000669.1:g.155285135T>G	GRCh37
NC_000007.12:g.154977896T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635903.1:n.1217-8555A>C
ENST00000406197.5:c.*47+10581A>C	ENSP00000384514.1:n.*47+10581A>C

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