Canonical Allele Identifier: CA4215351

Gene: BMPER

Linked Data

• ClinVar Variation Id: 360110
• ClinVar RCV Id: RCV000379073
• dbSNP Id: rs781214057
• ExAC: 7:34118713 C / T
• gnomAD v2: 7-34118713-C-T
• gnomAD v4: 7-34079101-C-T
• MyVariant Identifiers: chr7:g.34118713C>T (hg19) ; chr7:g.34079101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.34079101C>T , CM000669.2:g.34079101C>T	GRCh38
NC_000007.13:g.34118713C>T , CM000669.1:g.34118713C>T	GRCh37
NC_000007.12:g.34085238C>T	NCBI36
NG_031933.1:g.179191C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000476525.2:n.71-6655C>T
ENST00000647656.1:c.*725C>T	ENSP00000497346.1:n.*725C>T
ENST00000647703.1:n.718C>T
ENST00000648229.1:c.*219C>T	ENSP00000498201.1:n.*219C>T
ENST00000648305.1:c.*152C>T	ENSP00000497365.1:n.*152C>T
ENST00000648320.1:n.625C>T
ENST00000648392.1:c.1044C>T	ENSP00000497488.1:p.Asn348=
ENST00000648445.1:c.1149C>T	ENSP00000498008.1:p.Asn383=
ENST00000648618.1:c.*725C>T	ENSP00000496953.1:n.*725C>T
ENST00000648848.1:c.1079-6655C>T	ENSP00000497963.1:n.1079-6655C>T
ENST00000648856.1:c.1119C>T	ENSP00000496854.1:p.Asn373=
ENST00000648982.1:c.916C>T
ENST00000649002.1:c.*196C>T	ENSP00000496926.1:n.*196C>T
ENST00000649232.1:c.1154C>T	ENSP00000497721.1:n.1154C>T
ENST00000649409.2:c.1323C>T MANE Select	ENSP00000497748.1:p.Asn441=
ENST00000649771.1:c.991C>T	ENSP00000497314.1:p.Arg331Trp
ENST00000649985.1:c.*678C>T	ENSP00000497578.1:n.*678C>T
ENST00000650202.1:c.*725C>T	ENSP00000497972.1:n.*725C>T
ENST00000650206.1:c.*454C>T	ENSP00000497637.1:n.*454C>T
ENST00000650350.1:c.1066C>T	ENSP00000497933.1:n.1066C>T
ENST00000650533.1:c.*103-6655C>T	ENSP00000497081.1:n.*103-6655C>T
ENST00000650544.1:c.1218C>T	ENSP00000497982.1:p.Asn406=
ENST00000297161.6:c.1323C>T	ENSP00000297161.2:p.Asn441=
ENST00000476525.1:n.71-6655C>T
NM_133468.4:c.1323C>T	NP_597725.1:p.Asn441=
XM_005249633.1:c.1079-6655C>T	XP_005249690.1:n.1079-6655C>T
XR_428072.1:n.1309C>T
NM_001365308.1:c.1323C>T MANE Select	NP_001352237.1:p.Asn441=
NM_133468.5:c.1323C>T	NP_597725.1:p.Asn441=
XM_005249633.3:c.1079-6655C>T	XP_005249690.1:n.1079-6655C>T
XM_017011800.2:c.669C>T	XP_016867289.1:p.Asn223=
XM_017011801.2:c.425-6655C>T	XP_016867290.1:n.425-6655C>T