Canonical Allele Identifier: CA10623881
Gene: BMPER HGNC NCBI

Linked Data

ClinVar Variation Id: 360084
ClinVar RCV Id: RCV000366412
dbSNP Id: rs144748548
gnomAD v2: 7-33944535-C-A
gnomAD v3: 7-33904923-C-A
gnomAD v4: 7-33904923-C-A
MyVariant Identifiers: chr7:g.33944535C>A (hg19) chr7:g.33904923C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33904923C>A , CM000669.2:g.33904923C>A GRCh38
NC_000007.13:g.33944535C>A , CM000669.1:g.33944535C>A GRCh37
NC_000007.12:g.33911060C>A NCBI36
NG_031933.1:g.5013C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000436222.6:n.235+381C>A
ENST00000297161.6:c.-362C>A ENSP00000297161.2:n.-362C>A
ENST00000448280.5:c.-362C>A ENSP00000398835.1:n.-362C>A
NM_133468.4:c.-362C>A NP_597725.1:n.-362C>A
NM_133468.5:c.-362C>A NP_597725.1:n.-362C>A
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