Canonical Allele Identifier: CA10623895
Gene: BMPER HGNC NCBI

Linked Data

ClinVar Variation Id: 360100
ClinVar RCV Id: RCV000309799
dbSNP Id: rs886062296
gnomAD v2: 7-34009944-G-A
gnomAD v3: 7-33970332-G-A
gnomAD v4: 7-33970332-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33970332G>A , CM000669.2:g.33970332G>A GRCh38
NC_000007.13:g.34009944G>A , CM000669.1:g.34009944G>A GRCh37
NC_000007.12:g.33976469G>A NCBI36
NG_031933.1:g.70422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000436222.6:n.408G>A
ENST00000647656.1:c.306G>A ENSP00000497346.1:p.Arg102=
ENST00000648229.1:c.406G>A ENSP00000498201.1:p.Gly136Ser
ENST00000648305.1:c.406G>A ENSP00000497365.1:p.Gly136Ser
ENST00000648392.1:c.406G>A ENSP00000497488.1:p.Gly136Ser
ENST00000648445.1:c.406G>A ENSP00000498008.1:p.Gly136Ser
ENST00000648618.1:c.306G>A ENSP00000496953.1:p.Arg102=
ENST00000648848.1:c.406G>A ENSP00000497963.1:p.Gly136Ser
ENST00000648856.1:c.202G>A ENSP00000496854.1:p.Gly68Ser
ENST00000648982.1:c.209G>A
ENST00000649002.1:c.406G>A ENSP00000496926.1:p.Gly136Ser
ENST00000649232.1:c.337G>A ENSP00000497721.1:p.Gly113Ser
ENST00000649409.2:c.406G>A MANE Select ENSP00000497748.1:p.Gly136Ser
ENST00000649771.1:c.202G>A ENSP00000497314.1:p.Gly68Ser
ENST00000649985.1:c.202G>A ENSP00000497578.1:p.Gly68Ser
ENST00000650202.1:c.102G>A ENSP00000497972.1:p.Arg34=
ENST00000650206.1:c.306G>A ENSP00000497637.1:p.Arg102=
ENST00000650350.1:c.249G>A ENSP00000497933.1:p.Arg83=
ENST00000650533.1:c.202G>A ENSP00000497081.1:p.Gly68Ser
ENST00000650544.1:c.406G>A ENSP00000497982.1:p.Gly136Ser
ENST00000297161.6:c.406G>A ENSP00000297161.2:p.Gly136Ser
ENST00000436222.5:c.306G>A ENSP00000399843.2:p.Arg102=
NM_133468.4:c.406G>A NP_597725.1:p.Gly136Ser
XM_005249633.1:c.406G>A XP_005249690.1:p.Gly136Ser
XR_428072.1:n.520G>A
NM_001365308.1:c.406G>A MANE Select NP_001352237.1:p.Gly136Ser
NM_133468.5:c.406G>A NP_597725.1:p.Gly136Ser
XM_005249633.3:c.406G>A XP_005249690.1:p.Gly136Ser
XM_017011800.2:c.-149G>A XP_016867289.1:n.-149G>A
XM_017011801.2:c.-149G>A XP_016867290.1:n.-149G>A