Canonical Allele Identifier: CA4214974

Gene: BMPER

Linked Data

• ClinVar Variation Id: 402429
• ClinVar RCV Id: RCV000455168 ; RCV000962209 ; RCV001158674
• dbSNP Id: rs144030074
• ExAC: 7:33976901 A / G
• gnomAD v2: 7-33976901-A-G
• gnomAD v3: 7-33937289-A-G
• gnomAD v4: 7-33937289-A-G
• MyVariant Identifiers: chr7:g.33976901A>G (hg19) ; chr7:g.33937289A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33937289A>G , CM000669.2:g.33937289A>G	GRCh38
NC_000007.13:g.33976901A>G , CM000669.1:g.33976901A>G	GRCh37
NC_000007.12:g.33943426A>G	NCBI36
NG_031933.1:g.37379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436222.6:n.322-29190A>G
ENST00000647656.1:c.220-29190A>G	ENSP00000497346.1:n.220-29190A>G
ENST00000648229.1:c.220A>G	ENSP00000498201.1:p.Asn74Asp
ENST00000648305.1:c.220A>G	ENSP00000497365.1:p.Asn74Asp
ENST00000648392.1:c.220A>G	ENSP00000497488.1:p.Asn74Asp
ENST00000648445.1:c.220A>G	ENSP00000498008.1:p.Asn74Asp
ENST00000648618.1:c.220-29190A>G	ENSP00000496953.1:n.220-29190A>G
ENST00000648848.1:c.220A>G	ENSP00000497963.1:p.Asn74Asp
ENST00000648856.1:c.16A>G	ENSP00000496854.1:p.Asn6Asp
ENST00000648982.1:c.23A>G
ENST00000649002.1:c.220A>G	ENSP00000496926.1:p.Asn74Asp
ENST00000649232.1:c.34A>G	ENSP00000497721.1:p.Asn12Asp
ENST00000649409.2:c.220A>G MANE Select	ENSP00000497748.1:p.Asn74Asp
ENST00000649771.1:c.16A>G	ENSP00000497314.1:p.Asn6Asp
ENST00000649985.1:c.16A>G	ENSP00000497578.1:p.Asn6Asp
ENST00000650202.1:c.16-29190A>G	ENSP00000497972.1:n.16-29190A>G
ENST00000650206.1:c.220-29190A>G	ENSP00000497637.1:n.220-29190A>G
ENST00000650350.1:c.163-29190A>G	ENSP00000497933.1:n.163-29190A>G
ENST00000650533.1:c.16A>G	ENSP00000497081.1:p.Asn6Asp
ENST00000650544.1:c.220A>G	ENSP00000497982.1:p.Asn74Asp
ENST00000297161.6:c.220A>G	ENSP00000297161.2:p.Asn74Asp
ENST00000436222.5:c.220-29190A>G	ENSP00000399843.2:n.220-29190A>G
ENST00000444773.1:c.220A>G	ENSP00000409998.1:p.Asn74Asp
ENST00000496609.1:n.331A>G
NM_133468.4:c.220A>G	NP_597725.1:p.Asn74Asp
XM_005249633.1:c.220A>G	XP_005249690.1:p.Asn74Asp
XR_428072.1:n.334A>G
NM_001365308.1:c.220A>G MANE Select	NP_001352237.1:p.Asn74Asp
NM_133468.5:c.220A>G	NP_597725.1:p.Asn74Asp
XM_005249633.3:c.220A>G	XP_005249690.1:p.Asn74Asp
XM_017011800.2:c.-335A>G	XP_016867289.1:n.-335A>G
XM_017011801.2:c.-335A>G	XP_016867290.1:n.-335A>G