Canonical Allele Identifier: CA221682555

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 449612
• ClinVar RCV Id: RCV000519370 ; RCV000769311 ; RCV001256771 ; RCV002448572 ; RCV002476055 ; RCV002525124
• dbSNP Id: rs150786409
• gnomAD v2: 11-47354851-G-C
• gnomAD v4: 11-47333300-G-C
• MyVariant Identifiers: chr11:g.47354851G>C (hg19) ; chr11:g.47333300G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333300G>C , CM000673.2:g.47333300G>C	GRCh38
NC_000011.9:g.47354851G>C , CM000673.1:g.47354851G>C	GRCh37
NC_000011.8:g.47311427G>C	NCBI36
NG_007667.1:g.24403C>G , LRG_386:g.24403C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3224C>G MANE Select	ENSP00000442795.1:p.Thr1075Ser
ENST00000256993.8:c.3224C>G	ENSP00000256993.5:p.Thr1075Ser
ENST00000399249.6:c.3224C>G	ENSP00000382193.2:p.Thr1075Ser
ENST00000545968.5:c.3224C>G	ENSP00000442795.1:p.Thr1075Ser
NM_000256.3:c.3224C>G , LRG_386t1:c.3224C>G MANE Select	NP_000247.2:p.Thr1075Ser
XM_011520117.1:c.3206C>G	XP_011518419.1:p.Thr1069Ser
XM_011520118.1:c.3143C>G	XP_011518420.1:p.Thr1048Ser