Canonical Allele Identifier: CA011701
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 180962
dbSNP Id: rs3729946

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