Canonical Allele Identifier: CA380323704
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341161A>T , CM000673.2:g.47341161A>T GRCh38
NC_000011.9:g.47362712A>T , CM000673.1:g.47362712A>T GRCh37
NC_000011.8:g.47319288A>T NCBI36
NG_007667.1:g.16542T>A , LRG_386:g.16542T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1874T>A MANE Select ENSP00000442795.1:p.Leu625Gln
ENST00000256993.8:c.1874T>A ENSP00000256993.5:p.Leu625Gln
ENST00000399249.6:c.1874T>A ENSP00000382193.2:p.Leu625Gln
ENST00000544791.1:c.1874T>A ENSP00000444259.1:p.Leu625Gln
ENST00000545968.5:c.1874T>A ENSP00000442795.1:p.Leu625Gln
NM_000256.3:c.1874T>A , LRG_386t1:c.1874T>A MANE Select NP_000247.2:p.Leu625Gln
XM_011520117.1:c.1856T>A XP_011518419.1:p.Leu619Gln
XM_011520118.1:c.1874T>A XP_011518420.1:p.Leu625Gln