Canonical Allele Identifier: CA415094977

Gene: BCAP31

Linked Data

• MyVariant Identifiers: chrX:g.152986334C>A (hg19) ; chrX:g.153720879C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153720879C>A , CM000685.2:g.153720879C>A	GRCh38
NC_000023.10:g.152986334C>A , CM000685.1:g.152986334C>A	GRCh37
NC_000023.9:g.152639528C>A	NCBI36
NG_009022.2:g.1012C>A
NG_023231.1:g.8868G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000345046.12:c.186G>T MANE Select	ENSP00000343458.6:p.Leu62Phe
ENST00000458587.8:c.387G>T	ENSP00000392330.2:p.Leu129Phe
ENST00000645377.1:c.186G>T	ENSP00000494936.1:p.Leu62Phe
ENST00000645802.1:n.293G>T
ENST00000647529.1:c.186G>T	ENSP00000494052.1:p.Leu62Phe
ENST00000672675.1:c.186G>T	ENSP00000499882.1:p.Leu62Phe
ENST00000345046.10:c.186G>T	ENSP00000343458.6:p.Leu62Phe
ENST00000416815.5:c.186G>T	ENSP00000394270.1:p.Leu62Phe
ENST00000423827.5:c.186G>T	ENSP00000389740.1:p.Leu62Phe
ENST00000429550.5:c.186G>T	ENSP00000409888.1:p.Leu62Phe
ENST00000430088.1:c.186G>T	ENSP00000402342.1:p.Leu62Phe
ENST00000442093.5:c.186G>T	ENSP00000400345.1:p.Leu62Phe
ENST00000458587.6:c.387G>T	ENSP00000392330.2:p.Leu129Phe
ENST00000468947.1:n.279G>T
NM_001139441.1:c.186G>T	NP_001132913.1:p.Leu62Phe
NM_001139457.2:c.387G>T	NP_001132929.1:p.Leu129Phe
NM_001256447.1:c.186G>T	NP_001243376.1:p.Leu62Phe
NM_005745.7:c.186G>T	NP_005736.3:p.Leu62Phe
XR_002958758.1:n.817G>T
XR_002958759.1:n.643G>T
XR_002958760.1:n.408G>T
XR_002958761.1:n.342G>T
NM_001256447.2:c.186G>T MANE Select	NP_001243376.1:p.Leu62Phe
NM_005745.8:c.186G>T	NP_005736.3:p.Leu62Phe