Canonical Allele Identifier: CA380324320

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47342071-A-C
• MyVariant Identifiers: chr11:g.47363622A>C (hg19) ; chr11:g.47342071A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342071A>C , CM000673.2:g.47342071A>C	GRCh38
NC_000011.9:g.47363622A>C , CM000673.1:g.47363622A>C	GRCh37
NC_000011.8:g.47320198A>C	NCBI36
NG_007667.1:g.15632T>G , LRG_386:g.15632T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1710T>G MANE Select	ENSP00000442795.1:p.Asp570Glu
ENST00000256993.8:c.1710T>G	ENSP00000256993.5:p.Asp570Glu
ENST00000399249.6:c.1710T>G	ENSP00000382193.2:p.Asp570Glu
ENST00000544791.1:c.1710T>G	ENSP00000444259.1:p.Asp570Glu
ENST00000545968.5:c.1710T>G	ENSP00000442795.1:p.Asp570Glu
NM_000256.3:c.1710T>G , LRG_386t1:c.1710T>G MANE Select	NP_000247.2:p.Asp570Glu
XM_011520117.1:c.1692T>G	XP_011518419.1:p.Asp564Glu
XM_011520118.1:c.1710T>G	XP_011518420.1:p.Asp570Glu