Canonical Allele Identifier: CA337395391
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs9786502
gnomAD v3: Y-19456970-T-C
gnomAD v4: Y-19456970-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19456970T>C , CM000686.2:g.19456970T>C GRCh38
NC_000024.9:g.21618856T>C , CM000686.1:g.21618856T>C GRCh37
NC_000024.8:g.20078244T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650676.1:n.2163-106A>G
ENST00000400605.5:n.2217+87A>G
ENST00000441139.5:n.2028-106A>G
ENST00000513194.1:n.4814-106A>G
NR_002923.2:n.2028-106A>G
NR_033732.1:n.2234+87A>G