Canonical Allele Identifier: CA380321326
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339659T>G , CM000673.2:g.47339659T>G GRCh38
NC_000011.9:g.47361210T>G , CM000673.1:g.47361210T>G GRCh37
NC_000011.8:g.47317786T>G NCBI36
NG_007667.1:g.18044A>C , LRG_386:g.18044A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2059A>C MANE Select ENSP00000442795.1:p.Ile687Leu
ENST00000256993.8:c.2059A>C ENSP00000256993.5:p.Ile687Leu
ENST00000399249.6:c.2059A>C ENSP00000382193.2:p.Ile687Leu
ENST00000544791.1:c.2059A>C ENSP00000444259.1:p.Ile687Leu
ENST00000545968.5:c.2059A>C ENSP00000442795.1:p.Ile687Leu
NM_000256.3:c.2059A>C , LRG_386t1:c.2059A>C MANE Select NP_000247.2:p.Ile687Leu
XM_011520117.1:c.2041A>C XP_011518419.1:p.Ile681Leu
XM_011520118.1:c.2059A>C XP_011518420.1:p.Ile687Leu