Allele Registry

Canonical Allele Identifier: CA337399025

Gene: BCORP1 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrY:g.19560382T>C

GRCh37 chrY:g.21722268T>C

Linked Data - Sequence & Population

gnomAD v3:

Y:19560382 T / C

gnomAD v4:

chrY-19560382-T-C

Joint Max Group AF 0.00030114 (AFR)

Genomes Max Group AF 0.00030114 (AFR)

Linked Data - NCBI & NCI

dbSNP:

3905

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19560382T>C , CM000686.2:g.19560382T>C	GRCh38
NC_000024.9:g.21722268T>C , CM000686.1:g.21722268T>C	GRCh37
NC_000024.8:g.20181656T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693243.1:n.27-2242A>G
ENST00000650676.1:n.111+6600A>G
ENST00000651484.1:n.71-2242A>G
XR_938626.1:n.3173A>G
XR_938627.1:n.3173A>G
XR_938628.1:n.271-2242A>G
XR_938629.1:n.3173A>G
XR_001756064.2:n.199-2242A>G
XR_001756065.1:n.199-2242A>G
XR_001756066.1:n.199-963A>G
XR_938626.2:n.3569A>G
XR_938627.2:n.3569A>G
XR_938628.3:n.199-2242A>G

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