Canonical Allele Identifier: CA380318324

Gene: MYBPC3

Linked Data

• COSMIC: COSM1981527 ; COSM4191892
• MyVariant Identifiers: chr11:g.47359077A>G (hg19) ; chr11:g.47337526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337526A>G , CM000673.2:g.47337526A>G	GRCh38
NC_000011.9:g.47359077A>G , CM000673.1:g.47359077A>G	GRCh37
NC_000011.8:g.47315653A>G	NCBI36
NG_007667.1:g.20177T>C , LRG_386:g.20177T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2467T>C MANE Select	ENSP00000442795.1:p.Phe823Leu
ENST00000256993.8:c.2467T>C	ENSP00000256993.5:p.Phe823Leu
ENST00000399249.6:c.2467T>C	ENSP00000382193.2:p.Phe823Leu
ENST00000544791.1:c.2414-15T>C	ENSP00000444259.1:n.2414-15T>C
ENST00000545968.5:c.2467T>C	ENSP00000442795.1:p.Phe823Leu
NM_000256.3:c.2467T>C , LRG_386t1:c.2467T>C MANE Select	NP_000247.2:p.Phe823Leu
XM_011520117.1:c.2449T>C	XP_011518419.1:p.Phe817Leu
XM_011520118.1:c.2386T>C	XP_011518420.1:p.Phe796Leu