Canonical Allele Identifier: CA474218687

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47342002-G-A
• MyVariant Identifiers: chr11:g.47363553G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342002G>A , CM000673.2:g.47342002G>A	GRCh38
NC_000011.9:g.47363553G>A , CM000673.1:g.47363553G>A	GRCh37
NC_000011.8:g.47320129G>A	NCBI36
NG_007667.1:g.15701C>T , LRG_386:g.15701C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1779C>T MANE Select	ENSP00000442795.1:p.Ser593=
ENST00000256993.8:c.1779C>T	ENSP00000256993.5:p.Ser593=
ENST00000399249.6:c.1779C>T	ENSP00000382193.2:p.Ser593=
ENST00000544791.1:c.1779C>T	ENSP00000444259.1:p.Ser593=
ENST00000545968.5:c.1779C>T	ENSP00000442795.1:p.Ser593=
NM_000256.3:c.1779C>T , LRG_386t1:c.1779C>T MANE Select	NP_000247.2:p.Ser593=
XM_011520117.1:c.1761C>T	XP_011518419.1:p.Ser587=
XM_011520118.1:c.1779C>T	XP_011518420.1:p.Ser593=