Canonical Allele Identifier: CA474220900

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1571806
• ClinVar RCV Id: RCV002219291
• dbSNP Id: rs2142864233
• MyVariant Identifiers: chr11:g.47367837G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47346286G>C , CM000673.2:g.47346286G>C	GRCh38
NC_000011.9:g.47367837G>C , CM000673.1:g.47367837G>C	GRCh37
NC_000011.8:g.47324413G>C	NCBI36
NG_007667.1:g.11417C>G , LRG_386:g.11417C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1011C>G MANE Select	ENSP00000442795.1:p.Ala337=
ENST00000256993.8:c.1011C>G	ENSP00000256993.5:p.Ala337=
ENST00000399249.6:c.1011C>G	ENSP00000382193.2:p.Ala337=
ENST00000544791.1:c.1011C>G	ENSP00000444259.1:p.Ala337=
ENST00000545968.5:c.1011C>G	ENSP00000442795.1:p.Ala337=
NM_000256.3:c.1011C>G , LRG_386t1:c.1011C>G MANE Select	NP_000247.2:p.Ala337=
XM_011520117.1:c.993C>G	XP_011518419.1:p.Ala331=
XM_011520118.1:c.1011C>G	XP_011518420.1:p.Ala337=