Canonical Allele Identifier: CA380326461

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 972479
• ClinVar RCV Id: RCV001248519
• dbSNP Id: rs749310275
• gnomAD v4: 11-47342930-G-T
• MyVariant Identifiers: chr11:g.47364481G>T (hg19) ; chr11:g.47342930G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342930G>T , CM000673.2:g.47342930G>T	GRCh38
NC_000011.9:g.47364481G>T , CM000673.1:g.47364481G>T	GRCh37
NC_000011.8:g.47321057G>T	NCBI36
NG_007667.1:g.14773C>A , LRG_386:g.14773C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1357C>A MANE Select	ENSP00000442795.1:p.Pro453Thr
ENST00000256993.8:c.1357C>A	ENSP00000256993.5:p.Pro453Thr
ENST00000399249.6:c.1357C>A	ENSP00000382193.2:p.Pro453Thr
ENST00000544791.1:c.1357C>A	ENSP00000444259.1:p.Pro453Thr
ENST00000545968.5:c.1357C>A	ENSP00000442795.1:p.Pro453Thr
NM_000256.3:c.1357C>A , LRG_386t1:c.1357C>A MANE Select	NP_000247.2:p.Pro453Thr
XM_011520117.1:c.1339C>A	XP_011518419.1:p.Pro447Thr
XM_011520118.1:c.1357C>A	XP_011518420.1:p.Pro453Thr