Canonical Allele Identifier: CA474221351

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 525087
• ClinVar RCV Id: RCV000629092
• dbSNP Id: rs1555123092
• MyVariant Identifiers: chr11:g.47369982A>G (hg19) ; chr11:g.47348431A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47348431A>G , CM000673.2:g.47348431A>G	GRCh38
NC_000011.9:g.47369982A>G , CM000673.1:g.47369982A>G	GRCh37
NC_000011.8:g.47326558A>G	NCBI36
NG_007667.1:g.9272T>C , LRG_386:g.9272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.765T>C MANE Select	ENSP00000442795.1:p.Thr255=
ENST00000256993.8:c.765T>C	ENSP00000256993.5:p.Thr255=
ENST00000399249.6:c.765T>C	ENSP00000382193.2:p.Thr255=
ENST00000544791.1:c.765T>C	ENSP00000444259.1:p.Thr255=
ENST00000545968.5:c.765T>C	ENSP00000442795.1:p.Thr255=
NM_000256.3:c.765T>C , LRG_386t1:c.765T>C MANE Select	NP_000247.2:p.Thr255=
XM_011520117.1:c.765T>C	XP_011518419.1:p.Thr255=
XM_011520118.1:c.765T>C	XP_011518420.1:p.Thr255=