Canonical Allele Identifier: CA055192
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1435247
ClinVar RCV Id: RCV001972173
dbSNP Id: rs775370325

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332119G>A , CM000673.2:g.47332119G>A GRCh38
NC_000011.9:g.47353670G>A , CM000673.1:g.47353670G>A GRCh37
NC_000011.8:g.47310246G>A NCBI36
NG_007667.1:g.25584C>T , LRG_386:g.25584C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3767C>T MANE Select ENSP00000442795.1:p.Thr1256Ile
ENST00000256993.8:c.3767C>T ENSP00000256993.5:p.Thr1256Ile
ENST00000399249.6:c.3767C>T ENSP00000382193.2:p.Thr1256Ile
ENST00000545968.5:c.3767C>T ENSP00000442795.1:p.Thr1256Ile
NM_000256.3:c.3767C>T , LRG_386t1:c.3767C>T MANE Select NP_000247.2:p.Thr1256Ile
XM_011520117.1:c.3749C>T XP_011518419.1:p.Thr1250Ile
XM_011520118.1:c.3686C>T XP_011518420.1:p.Thr1229Ile