Canonical Allele Identifier: CA380309530

Gene: MYBPC3

Linked Data

• MyVariant Identifiers: chr11:g.47353623C>A (hg19) ; chr11:g.47332072C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332072C>A , CM000673.2:g.47332072C>A	GRCh38
NC_000011.9:g.47353623C>A , CM000673.1:g.47353623C>A	GRCh37
NC_000011.8:g.47310199C>A	NCBI36
NG_007667.1:g.25631G>T , LRG_386:g.25631G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3814G>T MANE Select	ENSP00000442795.1:p.Val1272Leu
ENST00000256993.8:c.3814G>T	ENSP00000256993.5:p.Val1272Leu
ENST00000399249.6:c.3814G>T	ENSP00000382193.2:p.Val1272Leu
ENST00000545968.5:c.3814G>T	ENSP00000442795.1:p.Val1272Leu
NM_000256.3:c.3814G>T , LRG_386t1:c.3814G>T MANE Select	NP_000247.2:p.Val1272Leu
XM_011520117.1:c.3796G>T	XP_011518419.1:p.Val1266Leu
XM_011520118.1:c.3733G>T	XP_011518420.1:p.Val1245Leu