Canonical Allele Identifier: CA380314047

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1467403
• ClinVar RCV Id: RCV001993405
• dbSNP Id: rs2142850793
• MyVariant Identifiers: chr11:g.47354762C>G (hg19) ; chr11:g.47333211C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333211C>G , CM000673.2:g.47333211C>G	GRCh38
NC_000011.9:g.47354762C>G , CM000673.1:g.47354762C>G	GRCh37
NC_000011.8:g.47311338C>G	NCBI36
NG_007667.1:g.24492G>C , LRG_386:g.24492G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3313G>C MANE Select	ENSP00000442795.1:p.Ala1105Pro
ENST00000256993.8:c.3313G>C	ENSP00000256993.5:p.Ala1105Pro
ENST00000399249.6:c.3313G>C	ENSP00000382193.2:p.Ala1105Pro
ENST00000545968.5:c.3313G>C	ENSP00000442795.1:p.Ala1105Pro
NM_000256.3:c.3313G>C , LRG_386t1:c.3313G>C MANE Select	NP_000247.2:p.Ala1105Pro
XM_011520117.1:c.3295G>C	XP_011518419.1:p.Ala1099Pro
XM_011520118.1:c.3232G>C	XP_011518420.1:p.Ala1078Pro