Canonical Allele Identifier: CA337398862
Gene: BCORP1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.19555322C>T
GRCh37 chrY:g.21717208C>T
gnomAD v3:
Y:19555322 C / T
gnomAD v4:
chrY-19555322-C-T
Joint Max Group AF 0.67174979 (AFR)
Genomes Max Group AF 0.67174979 (AFR)
dbSNP:
3848982
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19555322C>T , CM000686.2:g.19555322C>T GRCh38
NC_000024.9:g.21717208C>T , CM000686.1:g.21717208C>T GRCh37
NC_000024.8:g.20176596C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650676.1:n.111+11660G>A
ENST00000651484.1:n.1722G>A
XR_938629.1:n.4609G>A
XR_001756064.2:n.1866G>A
XR_001756065.1:n.1850G>A
XR_001756066.1:n.1930G>A
XR_938626.2:n.6696G>A
XR_938627.2:n.6680G>A
XR_938628.3:n.2283G>A
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