Canonical Allele Identifier: CA221697580

Gene: MYBPC3

Linked Data

• dbSNP Id: rs560140258
• MyVariant Identifiers: chr11:g.47365052A>T (hg19) ; chr11:g.47343501A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343501A>T , CM000673.2:g.47343501A>T	GRCh38
NC_000011.9:g.47365052A>T , CM000673.1:g.47365052A>T	GRCh37
NC_000011.8:g.47321628A>T	NCBI36
NG_007667.1:g.14202T>A , LRG_386:g.14202T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1214T>A MANE Select	ENSP00000442795.1:p.Met405Lys
ENST00000256993.8:c.1214T>A	ENSP00000256993.5:p.Met405Lys
ENST00000399249.6:c.1214T>A	ENSP00000382193.2:p.Met405Lys
ENST00000544791.1:c.1214T>A	ENSP00000444259.1:p.Met405Lys
ENST00000545968.5:c.1214T>A	ENSP00000442795.1:p.Met405Lys
NM_000256.3:c.1214T>A , LRG_386t1:c.1214T>A MANE Select	NP_000247.2:p.Met405Lys
XM_011520117.1:c.1196T>A	XP_011518419.1:p.Met399Lys
XM_011520118.1:c.1214T>A	XP_011518420.1:p.Met405Lys