Canonical Allele Identifier: CA337396520
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs66965464
gnomAD v3: Y-19484824-C-T
gnomAD v4: Y-19484824-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19484824C>T , CM000686.2:g.19484824C>T GRCh38
NC_000024.9:g.21646710C>T , CM000686.1:g.21646710C>T GRCh37
NC_000024.8:g.20106098C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.112-4530G>A
ENST00000400605.5:n.106-4530G>A
ENST00000441139.5:n.123-4530G>A
ENST00000513194.1:n.61G>A
NR_002923.2:n.123-4530G>A
NR_033732.1:n.123-4530G>A