Allele Registry

Canonical Allele Identifier: CA337399018

Gene: BCORP1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrY:g.19560212G>C

GRCh37 chrY:g.21722098G>C

Linked Data - Sequence & Population

gnomAD v3:

Y:19560212 G / C

gnomAD v4:

chrY-19560212-G-C

Joint Max Group AF 0.0001597 (AFR)

Genomes Max Group AF 0.0001597 (AFR)

Linked Data - NCBI & NCI

dbSNP:

3904

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19560212G>C , CM000686.2:g.19560212G>C	GRCh38
NC_000024.9:g.21722098G>C , CM000686.1:g.21722098G>C	GRCh37
NC_000024.8:g.20181486G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693243.1:n.27-2072C>G
ENST00000650676.1:n.111+6770C>G
ENST00000651484.1:n.71-2072C>G
XR_938626.1:n.3343C>G
XR_938627.1:n.3343C>G
XR_938628.1:n.271-2072C>G
XR_938629.1:n.3343C>G
XR_001756064.2:n.199-2072C>G
XR_001756065.1:n.199-2072C>G
XR_001756066.1:n.199-793C>G
XR_938626.2:n.3739C>G
XR_938627.2:n.3739C>G
XR_938628.3:n.199-2072C>G

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