Canonical Allele Identifier: CA380318539

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 3074322
• ClinVar RCV Id: RCV004012864
• MyVariant Identifiers: chr11:g.47359124A>G (hg19) ; chr11:g.47337573A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337573A>G , CM000673.2:g.47337573A>G	GRCh38
NC_000011.9:g.47359124A>G , CM000673.1:g.47359124A>G	GRCh37
NC_000011.8:g.47315700A>G	NCBI36
NG_007667.1:g.20130T>C , LRG_386:g.20130T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2420T>C MANE Select	ENSP00000442795.1:p.Ile807Thr
ENST00000256993.8:c.2420T>C	ENSP00000256993.5:p.Ile807Thr
ENST00000399249.6:c.2420T>C	ENSP00000382193.2:p.Ile807Thr
ENST00000544791.1:c.2414-62T>C	ENSP00000444259.1:n.2414-62T>C
ENST00000545968.5:c.2420T>C	ENSP00000442795.1:p.Ile807Thr
NM_000256.3:c.2420T>C , LRG_386t1:c.2420T>C MANE Select	NP_000247.2:p.Ile807Thr
XM_011520117.1:c.2402T>C	XP_011518419.1:p.Ile801Thr
XM_011520118.1:c.2339T>C	XP_011518420.1:p.Ile780Thr