Canonical Allele Identifier: CA380327602

Gene: MYBPC3

Linked Data

• COSMIC: COSM1981567 ; COSM4191933
• MyVariant Identifiers: chr11:g.47364665T>C (hg19) ; chr11:g.47343114T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343114T>C , CM000673.2:g.47343114T>C	GRCh38
NC_000011.9:g.47364665T>C , CM000673.1:g.47364665T>C	GRCh37
NC_000011.8:g.47321241T>C	NCBI36
NG_007667.1:g.14589A>G , LRG_386:g.14589A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1258A>G MANE Select	ENSP00000442795.1:p.Thr420Ala
ENST00000256993.8:c.1258A>G	ENSP00000256993.5:p.Thr420Ala
ENST00000399249.6:c.1258A>G	ENSP00000382193.2:p.Thr420Ala
ENST00000544791.1:c.1258A>G	ENSP00000444259.1:p.Thr420Ala
ENST00000545968.5:c.1258A>G	ENSP00000442795.1:p.Thr420Ala
NM_000256.3:c.1258A>G , LRG_386t1:c.1258A>G MANE Select	NP_000247.2:p.Thr420Ala
XM_011520117.1:c.1240A>G	XP_011518419.1:p.Thr414Ala
XM_011520118.1:c.1258A>G	XP_011518420.1:p.Thr420Ala