Canonical Allele Identifier: CA380314400

Gene: MYBPC3

Linked Data

• COSMIC: COSM4487803 ; COSM4487804
• MyVariant Identifiers: chr11:g.47354845G>A (hg19) ; chr11:g.47333294G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333294G>A , CM000673.2:g.47333294G>A	GRCh38
NC_000011.9:g.47354845G>A , CM000673.1:g.47354845G>A	GRCh37
NC_000011.8:g.47311421G>A	NCBI36
NG_007667.1:g.24409C>T , LRG_386:g.24409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3230C>T MANE Select	ENSP00000442795.1:p.Ala1077Val
ENST00000256993.8:c.3230C>T	ENSP00000256993.5:p.Ala1077Val
ENST00000399249.6:c.3230C>T	ENSP00000382193.2:p.Ala1077Val
ENST00000545968.5:c.3230C>T	ENSP00000442795.1:p.Ala1077Val
NM_000256.3:c.3230C>T , LRG_386t1:c.3230C>T MANE Select	NP_000247.2:p.Ala1077Val
XM_011520117.1:c.3212C>T	XP_011518419.1:p.Ala1071Val
XM_011520118.1:c.3149C>T	XP_011518420.1:p.Ala1050Val