Canonical Allele Identifier: CA4215517

Gene: BMPER

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.34143282G>A , CM000669.2:g.34143282G>A	GRCh38
NC_000007.13:g.34182894G>A , CM000669.1:g.34182894G>A	GRCh37
NC_000007.12:g.34149419G>A	NCBI36
NG_031933.1:g.243372G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001365308.1:c.1798G>A MANE Select	NP_001352237.1:p.Glu600Lys
ENST00000649409.2:c.1798G>A MANE Select	ENSP00000497748.1:p.Glu600Lys
NM_133468.4:c.1798G>A	NP_597725.1:p.Glu600Lys
NM_133468.5:c.1798G>A	NP_597725.1:p.Glu600Lys
ENST00000297161.6:c.1798G>A	ENSP00000297161.2:p.Glu600Lys
ENST00000476525.1:n.460G>A
ENST00000476525.2:n.460G>A
ENST00000647656.1:c.*1148-9810G>A	ENSP00000497346.1:n.*1148-9810G>A
ENST00000647703.1:n.1193G>A
ENST00000648229.1:c.*694G>A	ENSP00000498201.1:n.*694G>A
ENST00000648305.1:c.*627G>A	ENSP00000497365.1:n.*627G>A
ENST00000648320.1:n.1100G>A
ENST00000648392.1:c.1519G>A	ENSP00000497488.1:p.Glu507Lys
ENST00000648445.1:c.1624G>A	ENSP00000498008.1:p.Glu542Lys
ENST00000648618.1:c.*1200G>A	ENSP00000496953.1:n.*1200G>A
ENST00000648848.1:c.1468G>A	ENSP00000497963.1:p.Glu490Lys
ENST00000648856.1:c.1542-9810G>A	ENSP00000496854.1:n.1542-9810G>A
ENST00000648982.1:c.1391G>A
ENST00000649002.1:c.*671G>A	ENSP00000496926.1:n.*671G>A
ENST00000649232.1:c.1629G>A	ENSP00000497721.1:n.1629G>A
ENST00000649771.1:c.*287G>A	ENSP00000497314.1:n.*287G>A
ENST00000649985.1:c.*1153G>A	ENSP00000497578.1:n.*1153G>A
ENST00000650202.1:c.*1200G>A	ENSP00000497972.1:n.*1200G>A
ENST00000650206.1:c.*929G>A	ENSP00000497637.1:n.*929G>A
ENST00000650350.1:c.1541G>A	ENSP00000497933.1:n.1541G>A
ENST00000650533.1:c.*492G>A	ENSP00000497081.1:n.*492G>A
ENST00000650544.1:c.1693G>A	ENSP00000497982.1:p.Glu565Lys
XM_005249633.1:c.1468G>A	XP_005249690.1:p.Glu490Lys
XM_005249633.3:c.1468G>A	XP_005249690.1:p.Glu490Lys
XM_017011800.2:c.1144G>A	XP_016867289.1:p.Glu382Lys
XM_017011801.2:c.814G>A	XP_016867290.1:p.Glu272Lys
XR_428072.1:n.1784G>A