Canonical Allele Identifier: CA415096701

Gene: BCAP31

Linked Data

• dbSNP Id: rs1557051562
• gnomAD v2: X-152989019-T-C
• gnomAD v4: X-153723564-T-C
• MyVariant Identifiers: chrX:g.152989019T>C (hg19) ; chrX:g.153723564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153723564T>C , CM000685.2:g.153723564T>C	GRCh38
NC_000023.10:g.152989019T>C , CM000685.1:g.152989019T>C	GRCh37
NC_000023.9:g.152642213T>C	NCBI36
NG_009022.2:g.3697T>C
NG_023231.1:g.6183A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000345046.12:c.-44-276A>G MANE Select	ENSP00000343458.6:n.-44-276A>G
ENST00000458587.8:c.101A>G	ENSP00000392330.2:p.Gln34Arg
ENST00000645377.1:c.-44-276A>G	ENSP00000494936.1:n.-44-276A>G
ENST00000645802.1:n.64-276A>G
ENST00000647529.1:c.-101A>G	ENSP00000494052.1:n.-101A>G
ENST00000672675.1:c.-44-276A>G	ENSP00000499882.1:n.-44-276A>G
ENST00000345046.10:c.-44-276A>G	ENSP00000343458.6:n.-44-276A>G
ENST00000416815.5:c.-44-276A>G	ENSP00000394270.1:n.-44-276A>G
ENST00000423827.5:c.-44-276A>G	ENSP00000389740.1:n.-44-276A>G
ENST00000429550.5:c.-44-276A>G	ENSP00000409888.1:n.-44-276A>G
ENST00000442093.5:c.-44-276A>G	ENSP00000400345.1:n.-44-276A>G
ENST00000458587.6:c.101A>G	ENSP00000392330.2:p.Gln34Arg
NM_001139441.1:c.-44-276A>G	NP_001132913.1:n.-44-276A>G
NM_001139457.2:c.101A>G	NP_001132929.1:p.Gln34Arg
NM_001256447.1:c.-44-276A>G	NP_001243376.1:n.-44-276A>G
NM_005745.7:c.-44-276A>G	NP_005736.3:n.-44-276A>G
XR_002958758.1:n.531A>G
XR_002958759.1:n.414-276A>G
XR_002958760.1:n.179-276A>G
XR_002958761.1:n.113-276A>G
NM_001256447.2:c.-44-276A>G MANE Select	NP_001243376.1:n.-44-276A>G
NM_005745.8:c.-44-276A>G	NP_005736.3:n.-44-276A>G