Canonical Allele Identifier: CA474219842
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47364217C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342666C>A , CM000673.2:g.47342666C>A GRCh38
NC_000011.9:g.47364217C>A , CM000673.1:g.47364217C>A GRCh37
NC_000011.8:g.47320793C>A NCBI36
NG_007667.1:g.15037G>T , LRG_386:g.15037G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1536G>T MANE Select ENSP00000442795.1:p.Leu512=
ENST00000256993.8:c.1536G>T ENSP00000256993.5:p.Leu512=
ENST00000399249.6:c.1536G>T ENSP00000382193.2:p.Leu512=
ENST00000544791.1:c.1536G>T ENSP00000444259.1:p.Leu512=
ENST00000545968.5:c.1536G>T ENSP00000442795.1:p.Leu512=
NM_000256.3:c.1536G>T , LRG_386t1:c.1536G>T MANE Select NP_000247.2:p.Leu512=
XM_011520117.1:c.1518G>T XP_011518419.1:p.Leu506=
XM_011520118.1:c.1536G>T XP_011518420.1:p.Leu512=