Canonical Allele Identifier: CA380312180

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2083039
• ClinVar RCV Id: RCV003009018
• MyVariant Identifiers: chr11:g.47354121G>C (hg19) ; chr11:g.47332570G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332570G>C , CM000673.2:g.47332570G>C	GRCh38
NC_000011.9:g.47354121G>C , CM000673.1:g.47354121G>C	GRCh37
NC_000011.8:g.47310697G>C	NCBI36
NG_007667.1:g.25133C>G , LRG_386:g.25133C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3623C>G MANE Select	ENSP00000442795.1:p.Pro1208Arg
ENST00000256993.8:c.3623C>G	ENSP00000256993.5:p.Pro1208Arg
ENST00000399249.6:c.3623C>G	ENSP00000382193.2:p.Pro1208Arg
ENST00000545968.5:c.3623C>G	ENSP00000442795.1:p.Pro1208Arg
NM_000256.3:c.3623C>G , LRG_386t1:c.3623C>G MANE Select	NP_000247.2:p.Pro1208Arg
XM_011520117.1:c.3605C>G	XP_011518419.1:p.Pro1202Arg
XM_011520118.1:c.3542C>G	XP_011518420.1:p.Pro1181Arg