Canonical Allele Identifier: CA380318537

Gene: MYBPC3

Linked Data

• MyVariant Identifiers: chr11:g.47359124A>C (hg19) ; chr11:g.47337573A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2420T>G MANE Select	ENSP00000442795.1:p.Ile807Ser
ENST00000256993.8:c.2420T>G	ENSP00000256993.5:p.Ile807Ser
ENST00000399249.6:c.2420T>G	ENSP00000382193.2:p.Ile807Ser
ENST00000544791.1:c.2414-62T>G	ENSP00000444259.1:n.2414-62T>G
ENST00000545968.5:c.2420T>G	ENSP00000442795.1:p.Ile807Ser
NM_000256.3:c.2420T>G , LRG_386t1:c.2420T>G MANE Select	NP_000247.2:p.Ile807Ser
XM_011520117.1:c.2402T>G	XP_011518419.1:p.Ile801Ser
XM_011520118.1:c.2339T>G	XP_011518420.1:p.Ile780Ser