Canonical Allele Identifier: CA337395861
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs112131143
gnomAD v3: Y-19467558-C-T
gnomAD v4: Y-19467558-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19467558C>T , CM000686.2:g.19467558C>T GRCh38
NC_000024.9:g.21629444C>T , CM000686.1:g.21629444C>T GRCh37
NC_000024.8:g.20088832C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.742-184G>A
ENST00000400605.5:n.736-184G>A
ENST00000441139.5:n.753-184G>A
ENST00000513194.1:n.3992-171G>A
NR_002923.2:n.753-184G>A
NR_033732.1:n.753-184G>A