Canonical Allele Identifier: CA380311276

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 518915
• ClinVar RCV Id: RCV000618129 ; RCV001039751
• dbSNP Id: rs1555120162
• MyVariant Identifiers: chr11:g.47353734C>A (hg19) ; chr11:g.47332183C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332183C>A , CM000673.2:g.47332183C>A	GRCh38
NC_000011.9:g.47353734C>A , CM000673.1:g.47353734C>A	GRCh37
NC_000011.8:g.47310310C>A	NCBI36
NG_007667.1:g.25520G>T , LRG_386:g.25520G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3703G>T MANE Select	ENSP00000442795.1:p.Val1235Leu
ENST00000256993.8:c.3703G>T	ENSP00000256993.5:p.Val1235Leu
ENST00000399249.6:c.3703G>T	ENSP00000382193.2:p.Val1235Leu
ENST00000545968.5:c.3703G>T	ENSP00000442795.1:p.Val1235Leu
NM_000256.3:c.3703G>T , LRG_386t1:c.3703G>T MANE Select	NP_000247.2:p.Val1235Leu
XM_011520117.1:c.3685G>T	XP_011518419.1:p.Val1229Leu
XM_011520118.1:c.3622G>T	XP_011518420.1:p.Val1208Leu