Canonical Allele Identifier: CA380315407
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333691A>T , CM000673.2:g.47333691A>T GRCh38
NC_000011.9:g.47355242A>T , CM000673.1:g.47355242A>T GRCh37
NC_000011.8:g.47311818A>T NCBI36
NG_007667.1:g.24012T>A , LRG_386:g.24012T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3056T>A MANE Select ENSP00000442795.1:p.Val1019Glu
ENST00000256993.8:c.3056T>A ENSP00000256993.5:p.Val1019Glu
ENST00000399249.6:c.3056T>A ENSP00000382193.2:p.Val1019Glu
ENST00000545968.5:c.3056T>A ENSP00000442795.1:p.Val1019Glu
NM_000256.3:c.3056T>A , LRG_386t1:c.3056T>A MANE Select NP_000247.2:p.Val1019Glu
XM_011520117.1:c.3038T>A XP_011518419.1:p.Val1013Glu
XM_011520118.1:c.2975T>A XP_011518420.1:p.Val992Glu