Canonical Allele Identifier: CA054468

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1319758107
• gnomAD v2: 11-47354144-G-A
• gnomAD v4: 11-47332593-G-A
• MyVariant Identifiers: chr11:g.47354144G>A (hg19) ; chr11:g.47332593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332593G>A , CM000673.2:g.47332593G>A	GRCh38
NC_000011.9:g.47354144G>A , CM000673.1:g.47354144G>A	GRCh37
NC_000011.8:g.47310720G>A	NCBI36
NG_007667.1:g.25110C>T , LRG_386:g.25110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3600C>T MANE Select	ENSP00000442795.1:p.Leu1200=
ENST00000256993.8:c.3600C>T	ENSP00000256993.5:p.Leu1200=
ENST00000399249.6:c.3600C>T	ENSP00000382193.2:p.Leu1200=
ENST00000545968.5:c.3600C>T	ENSP00000442795.1:p.Leu1200=
NM_000256.3:c.3600C>T , LRG_386t1:c.3600C>T MANE Select	NP_000247.2:p.Leu1200=
XM_011520117.1:c.3582C>T	XP_011518419.1:p.Leu1194=
XM_011520118.1:c.3519C>T	XP_011518420.1:p.Leu1173=