Canonical Allele Identifier: CA10629172
Gene: BMPER HGNC NCBI

Linked Data

ClinVar Variation Id: 360145
ClinVar RCV Id: RCV000271431
dbSNP Id: rs185967190
gnomAD v2: 7-34194439-A-C
gnomAD v3: 7-34154827-A-C
gnomAD v4: 7-34154827-A-C
MyVariant Identifiers: chr7:g.34194439A>C (hg19) chr7:g.34154827A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.34154827A>C , CM000669.2:g.34154827A>C GRCh38
NC_000007.13:g.34194439A>C , CM000669.1:g.34194439A>C GRCh37
NC_000007.12:g.34160964A>C NCBI36
NG_031933.1:g.254917A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648982.1:c.3205A>C
ENST00000649409.2:c.*1554A>C MANE Select ENSP00000497748.1:n.*1554A>C
ENST00000650206.1:c.*2743A>C ENSP00000497637.1:n.*2743A>C
ENST00000297161.6:c.*1554A>C ENSP00000297161.2:n.*1554A>C
NM_133468.4:c.*1554A>C NP_597725.1:n.*1554A>C
NM_001365308.1:c.*1554A>C MANE Select NP_001352237.1:n.*1554A>C
NM_133468.5:c.*1554A>C NP_597725.1:n.*1554A>C
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