Canonical Allele Identifier: CA337396385
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs915328586
gnomAD v3: Y-19482587-G-T
gnomAD v4: Y-19482587-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19482587G>T , CM000686.2:g.19482587G>T GRCh38
NC_000024.9:g.21644473G>T , CM000686.1:g.21644473G>T GRCh37
NC_000024.8:g.20103861G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650676.1:n.112-2293C>A
ENST00000400605.5:n.106-2293C>A
ENST00000441139.5:n.123-2293C>A
ENST00000513194.1:n.2298C>A
NR_002923.2:n.123-2293C>A
NR_033732.1:n.123-2293C>A