Canonical Allele Identifier: CA221688707

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1466169
• ClinVar RCV Id: RCV001979545 ; RCV003533079
• dbSNP Id: rs979085643
• gnomAD v4: 11-47337576-T-C
• MyVariant Identifiers: chr11:g.47359127T>C (hg19) ; chr11:g.47337576T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337576T>C , CM000673.2:g.47337576T>C	GRCh38
NC_000011.9:g.47359127T>C , CM000673.1:g.47359127T>C	GRCh37
NC_000011.8:g.47315703T>C	NCBI36
NG_007667.1:g.20127A>G , LRG_386:g.20127A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2417A>G MANE Select	ENSP00000442795.1:p.Tyr806Cys
ENST00000256993.8:c.2417A>G	ENSP00000256993.5:p.Tyr806Cys
ENST00000399249.6:c.2417A>G	ENSP00000382193.2:p.Tyr806Cys
ENST00000544791.1:c.2414-65A>G	ENSP00000444259.1:n.2414-65A>G
ENST00000545968.5:c.2417A>G	ENSP00000442795.1:p.Tyr806Cys
NM_000256.3:c.2417A>G , LRG_386t1:c.2417A>G MANE Select	NP_000247.2:p.Tyr806Cys
XM_011520117.1:c.2399A>G	XP_011518419.1:p.Tyr800Cys
XM_011520118.1:c.2336A>G	XP_011518420.1:p.Tyr779Cys