Canonical Allele Identifier: CA10576887
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 228866
dbSNP Id: rs876657870

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337537A>G , CM000673.2:g.47337537A>G GRCh38
NC_000011.9:g.47359088A>G , CM000673.1:g.47359088A>G GRCh37
NC_000011.8:g.47315664A>G NCBI36
NG_007667.1:g.20166T>C , LRG_386:g.20166T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2456T>C MANE Select ENSP00000442795.1:p.Met819Thr
ENST00000256993.8:c.2456T>C ENSP00000256993.5:p.Met819Thr
ENST00000399249.6:c.2456T>C ENSP00000382193.2:p.Met819Thr
ENST00000544791.1:c.2414-26T>C ENSP00000444259.1:n.2414-26T>C
ENST00000545968.5:c.2456T>C ENSP00000442795.1:p.Met819Thr
NM_000256.3:c.2456T>C , LRG_386t1:c.2456T>C MANE Select NP_000247.2:p.Met819Thr
XM_011520117.1:c.2438T>C XP_011518419.1:p.Met813Thr
XM_011520118.1:c.2375T>C XP_011518420.1:p.Met792Thr