Canonical Allele Identifier: CA474219010
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47363664C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342113C>A , CM000673.2:g.47342113C>A GRCh38
NC_000011.9:g.47363664C>A , CM000673.1:g.47363664C>A GRCh37
NC_000011.8:g.47320240C>A NCBI36
NG_007667.1:g.15590G>T , LRG_386:g.15590G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1668G>T MANE Select ENSP00000442795.1:p.Val556=
ENST00000256993.8:c.1668G>T ENSP00000256993.5:p.Val556=
ENST00000399249.6:c.1668G>T ENSP00000382193.2:p.Val556=
ENST00000544791.1:c.1668G>T ENSP00000444259.1:p.Val556=
ENST00000545968.5:c.1668G>T ENSP00000442795.1:p.Val556=
NM_000256.3:c.1668G>T , LRG_386t1:c.1668G>T MANE Select NP_000247.2:p.Val556=
XM_011520117.1:c.1650G>T XP_011518419.1:p.Val550=
XM_011520118.1:c.1668G>T XP_011518420.1:p.Val556=