Canonical Allele Identifier: CA013224

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 177956
• ClinVar RCV Id: RCV000154619 ; RCV000433026
• dbSNP Id: rs727504423
• MyVariant Identifiers: chr11:g.47355514T>A (hg19) ; chr11:g.47333963T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333963T>A , CM000673.2:g.47333963T>A	GRCh38
NC_000011.9:g.47355514T>A , CM000673.1:g.47355514T>A	GRCh37
NC_000011.8:g.47312090T>A	NCBI36
NG_007667.1:g.23740A>T , LRG_386:g.23740A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2953A>T MANE Select	ENSP00000442795.1:p.Lys985Ter
ENST00000256993.8:c.2953A>T	ENSP00000256993.5:p.Lys985Ter
ENST00000399249.6:c.2953A>T	ENSP00000382193.2:p.Lys985Ter
ENST00000545968.5:c.2953A>T	ENSP00000442795.1:p.Lys985Ter
NM_000256.3:c.2953A>T , LRG_386t1:c.2953A>T MANE Select	NP_000247.2:p.Lys985Ter
XM_011520117.1:c.2935A>T	XP_011518419.1:p.Lys979Ter
XM_011520118.1:c.2872A>T	XP_011518420.1:p.Lys958Ter