Canonical Allele Identifier: CA337396411
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs886074802
gnomAD v3: Y-19483033-C-G
gnomAD v4: Y-19483033-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19483033C>G , CM000686.2:g.19483033C>G GRCh38
NC_000024.9:g.21644919C>G , CM000686.1:g.21644919C>G GRCh37
NC_000024.8:g.20104307C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650676.1:n.112-2739G>C
ENST00000400605.5:n.106-2739G>C
ENST00000441139.5:n.123-2739G>C
ENST00000513194.1:n.1852G>C
NR_002923.2:n.123-2739G>C
NR_033732.1:n.123-2739G>C