Canonical Allele Identifier: CA380323737

Gene: MYBPC3

Linked Data

• MyVariant Identifiers: chr11:g.47362717G>C (hg19) ; chr11:g.47341166G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341166G>C , CM000673.2:g.47341166G>C	GRCh38
NC_000011.9:g.47362717G>C , CM000673.1:g.47362717G>C	GRCh37
NC_000011.8:g.47319293G>C	NCBI36
NG_007667.1:g.16537C>G , LRG_386:g.16537C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1869C>G MANE Select	ENSP00000442795.1:p.Cys623Trp
ENST00000256993.8:c.1869C>G	ENSP00000256993.5:p.Cys623Trp
ENST00000399249.6:c.1869C>G	ENSP00000382193.2:p.Cys623Trp
ENST00000544791.1:c.1869C>G	ENSP00000444259.1:p.Cys623Trp
ENST00000545968.5:c.1869C>G	ENSP00000442795.1:p.Cys623Trp
NM_000256.3:c.1869C>G , LRG_386t1:c.1869C>G MANE Select	NP_000247.2:p.Cys623Trp
XM_011520117.1:c.1851C>G	XP_011518419.1:p.Cys617Trp
XM_011520118.1:c.1869C>G	XP_011518420.1:p.Cys623Trp