Canonical Allele Identifier: CA677000613

Gene: MYBPC3

Linked Data

• dbSNP Id: rs786204339
• MyVariant Identifiers: chr11:g.47364461_47364462del (hg19) ; chr11:g.47342910_47342911del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342912_47342913del , CM000673.2:g.47342912_47342913del	GRCh38
NC_000011.9:g.47364463_47364464del , CM000673.1:g.47364463_47364464del	GRCh37
NC_000011.8:g.47321039_47321040del	NCBI36
NG_007667.1:g.14792_14793del , LRG_386:g.14792_14793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1376_1377del MANE Select	ENSP00000442795.1:p.Pro459LeufsTer15
ENST00000256993.8:c.1376_1377del	ENSP00000256993.5:p.Pro459LeufsTer15
ENST00000399249.6:c.1376_1377del	ENSP00000382193.2:p.Pro459LeufsTer15
ENST00000544791.1:c.1376_1377del	ENSP00000444259.1:p.Pro459LeufsTer15
ENST00000545968.5:c.1376_1377del	ENSP00000442795.1:p.Pro459LeufsTer15
NM_000256.3:c.1376_1377del , LRG_386t1:c.1376_1377del MANE Select	NP_000247.2:p.Pro459LeufsTer15
XM_011520117.1:c.1358_1359del	XP_011518419.1:p.Pro453LeufsTer15
XM_011520118.1:c.1376_1377del	XP_011518420.1:p.Pro459LeufsTer15