Canonical Allele Identifier: CA014095

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 36611
• ClinVar RCV Id: RCV000030289 ; RCV000253851 ; RCV000426587 ; RCV000549683
• dbSNP Id: rs193922383
• gnomAD v3: 11-47332896-G-T
• gnomAD v4: 11-47332896-G-T
• MyVariant Identifiers: chr11:g.47354447G>T (hg19) ; chr11:g.47332896G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332896G>T , CM000673.2:g.47332896G>T	GRCh38
NC_000011.9:g.47354447G>T , CM000673.1:g.47354447G>T	GRCh37
NC_000011.8:g.47311023G>T	NCBI36
NG_007667.1:g.24807C>A , LRG_386:g.24807C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3408C>A MANE Select	ENSP00000442795.1:p.Tyr1136Ter
ENST00000256993.8:c.3408C>A	ENSP00000256993.5:p.Tyr1136Ter
ENST00000399249.6:c.3408C>A	ENSP00000382193.2:p.Tyr1136Ter
ENST00000545968.5:c.3408C>A	ENSP00000442795.1:p.Tyr1136Ter
NM_000256.3:c.3408C>A , LRG_386t1:c.3408C>A MANE Select	NP_000247.2:p.Tyr1136Ter
XM_011520117.1:c.3390C>A	XP_011518419.1:p.Tyr1130Ter
XM_011520118.1:c.3327C>A	XP_011518420.1:p.Tyr1109Ter