Canonical Allele Identifier: CA011701

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 180962
• ClinVar RCV Id: RCV000158137 ; RCV001178351 ; RCV002415691 ; RCV002492619 ; RCV002516379
• dbSNP Id: rs3729946
• ExAC: 11:47361206 G / T
• gnomAD v2: 11-47361206-G-T
• gnomAD v3: 11-47339655-G-T
• gnomAD v4: 11-47339655-G-T
• MyVariant Identifiers: chr11:g.47361206G>T (hg19) ; chr11:g.47339655G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339655G>T , CM000673.2:g.47339655G>T	GRCh38
NC_000011.9:g.47361206G>T , CM000673.1:g.47361206G>T	GRCh37
NC_000011.8:g.47317782G>T	NCBI36
NG_007667.1:g.18048C>A , LRG_386:g.18048C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2063C>A MANE Select	ENSP00000442795.1:p.Thr688Lys
ENST00000256993.8:c.2063C>A	ENSP00000256993.5:p.Thr688Lys
ENST00000399249.6:c.2063C>A	ENSP00000382193.2:p.Thr688Lys
ENST00000544791.1:c.2063C>A	ENSP00000444259.1:p.Thr688Lys
ENST00000545968.5:c.2063C>A	ENSP00000442795.1:p.Thr688Lys
NM_000256.3:c.2063C>A , LRG_386t1:c.2063C>A MANE Select	NP_000247.2:p.Thr688Lys
XM_011520117.1:c.2045C>A	XP_011518419.1:p.Thr682Lys
XM_011520118.1:c.2063C>A	XP_011518420.1:p.Thr688Lys