Canonical Allele Identifier: CA520119001
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs1325434274
gnomAD v3: Y-19483317-C-T
gnomAD v4: Y-19483317-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19483317C>T , CM000686.2:g.19483317C>T GRCh38
NC_000024.9:g.21645203C>T , CM000686.1:g.21645203C>T GRCh37
NC_000024.8:g.20104591C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650676.1:n.112-3023G>A
ENST00000400605.5:n.106-3023G>A
ENST00000441139.5:n.123-3023G>A
ENST00000513194.1:n.1568G>A
NR_002923.2:n.123-3023G>A
NR_033732.1:n.123-3023G>A