Canonical Allele Identifier: CA156797815
Community Standard Title: NM_001365308.1(BMPER):c.576+118G>A
Gene: BMPER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33974902G>A , CM000669.2:g.33974902G>A GRCh38
NC_000007.13:g.34014514G>A , CM000669.1:g.34014514G>A GRCh37
NC_000007.12:g.33981039G>A NCBI36
NG_031933.1:g.74992G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001365308.1:c.576+118G>A MANE Select NP_001352237.1:n.576+118G>A
ENST00000649409.2:c.576+118G>A MANE Select ENSP00000497748.1:n.576+118G>A
NM_133468.4:c.576+118G>A NP_597725.1:n.576+118G>A
NM_133468.5:c.576+118G>A NP_597725.1:n.576+118G>A
ENST00000297161.6:c.576+118G>A ENSP00000297161.2:n.576+118G>A
ENST00000436222.5:c.476+118G>A ENSP00000399843.2:n.476+118G>A
ENST00000436222.6:n.578+118G>A
ENST00000647656.1:c.476+118G>A ENSP00000497346.1:n.476+118G>A
ENST00000648229.1:c.576+118G>A ENSP00000498201.1:n.576+118G>A
ENST00000648305.1:c.576+118G>A ENSP00000497365.1:n.576+118G>A
ENST00000648392.1:c.576+118G>A ENSP00000497488.1:n.576+118G>A
ENST00000648445.1:c.576+118G>A ENSP00000498008.1:n.576+118G>A
ENST00000648618.1:c.476+118G>A ENSP00000496953.1:n.476+118G>A
ENST00000648848.1:c.576+118G>A ENSP00000497963.1:n.576+118G>A
ENST00000648856.1:c.372+118G>A ENSP00000496854.1:n.372+118G>A
ENST00000648982.1:c.379+118G>A
ENST00000649002.1:c.576+118G>A ENSP00000496926.1:n.576+118G>A
ENST00000649232.1:c.507+118G>A ENSP00000497721.1:n.507+118G>A
ENST00000649771.1:c.372+118G>A ENSP00000497314.1:n.372+118G>A
ENST00000649985.1:c.372+118G>A ENSP00000497578.1:n.372+118G>A
ENST00000650202.1:c.272+118G>A ENSP00000497972.1:n.272+118G>A
ENST00000650206.1:c.476+118G>A ENSP00000497637.1:n.476+118G>A
ENST00000650350.1:c.419+118G>A ENSP00000497933.1:n.419+118G>A
ENST00000650533.1:c.372+118G>A ENSP00000497081.1:n.372+118G>A
ENST00000650544.1:c.576+118G>A ENSP00000497982.1:n.576+118G>A
XM_005249633.1:c.576+118G>A XP_005249690.1:n.576+118G>A
XM_005249633.3:c.576+118G>A XP_005249690.1:n.576+118G>A
XM_017011800.2:c.22+118G>A XP_016867289.1:n.22+118G>A
XM_017011801.2:c.22+118G>A XP_016867290.1:n.22+118G>A
XR_428072.1:n.690+118G>A