Canonical Allele Identifier: CA380321362
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339665T>G , CM000673.2:g.47339665T>G GRCh38
NC_000011.9:g.47361216T>G , CM000673.1:g.47361216T>G GRCh37
NC_000011.8:g.47317792T>G NCBI36
NG_007667.1:g.18038A>C , LRG_386:g.18038A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2053A>C MANE Select ENSP00000442795.1:p.Lys685Gln
ENST00000256993.8:c.2053A>C ENSP00000256993.5:p.Lys685Gln
ENST00000399249.6:c.2053A>C ENSP00000382193.2:p.Lys685Gln
ENST00000544791.1:c.2053A>C ENSP00000444259.1:p.Lys685Gln
ENST00000545968.5:c.2053A>C ENSP00000442795.1:p.Lys685Gln
NM_000256.3:c.2053A>C , LRG_386t1:c.2053A>C MANE Select NP_000247.2:p.Lys685Gln
XM_011520117.1:c.2035A>C XP_011518419.1:p.Lys679Gln
XM_011520118.1:c.2053A>C XP_011518420.1:p.Lys685Gln