Canonical Allele Identifier: CA079451

Gene: MYBPC3

Linked Data

• dbSNP Id: rs749697983
• ExAC: 11:47354124 C / A
• gnomAD v2: 11-47354124-C-A
• gnomAD v4: 11-47332573-C-A
• MyVariant Identifiers: chr11:g.47354124C>A (hg19) ; chr11:g.47332573C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332573C>A , CM000673.2:g.47332573C>A	GRCh38
NC_000011.9:g.47354124C>A , CM000673.1:g.47354124C>A	GRCh37
NC_000011.8:g.47310700C>A	NCBI36
NG_007667.1:g.25130G>T , LRG_386:g.25130G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3620G>T MANE Select	ENSP00000442795.1:p.Ser1207Ile
ENST00000256993.8:c.3620G>T	ENSP00000256993.5:p.Ser1207Ile
ENST00000399249.6:c.3620G>T	ENSP00000382193.2:p.Ser1207Ile
ENST00000545968.5:c.3620G>T	ENSP00000442795.1:p.Ser1207Ile
NM_000256.3:c.3620G>T , LRG_386t1:c.3620G>T MANE Select	NP_000247.2:p.Ser1207Ile
XM_011520117.1:c.3602G>T	XP_011518419.1:p.Ser1201Ile
XM_011520118.1:c.3539G>T	XP_011518420.1:p.Ser1180Ile