Canonical Allele Identifier: CA10648646

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329106
• ClinVar RCV Id: RCV000276753 ; RCV000354968 ; RCV000315425 ; RCV001506741 ; RCV000366856 ; RCV003995875
• dbSNP Id: rs886054401
• gnomAD v4: 19-38534752-C-T
• MyVariant Identifiers: chr19:g.39025392C>T (hg19) ; chr19:g.38534752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38534752C>T , CM000681.2:g.38534752C>T	GRCh38
NC_000019.9:g.39025392C>T , CM000681.1:g.39025392C>T	GRCh37
NC_000019.8:g.43717232C>T	NCBI36
NG_008866.1:g.106053C>T , LRG_766:g.106053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.11231C>T	ENSP00000471601.2:n.11231C>T
ENST00000359596.8:c.11292C>T MANE Select	ENSP00000352608.2:p.Tyr3764=
ENST00000355481.8:c.11277C>T	ENSP00000347667.3:p.Tyr3759=
ENST00000359596.7:c.11292C>T	ENSP00000352608.2:p.Tyr3764=
ENST00000360985.7:c.11274C>T	ENSP00000354254.4:p.Tyr3758=
ENST00000594335.5:c.4679C>T
ENST00000596431.5:c.21C>T	ENSP00000470848.1:p.Tyr7=
ENST00000599547.5:c.2099C>T
ENST00000601514.5:c.573C>T	ENSP00000472497.1:p.Tyr191=
NM_000540.2:c.11292C>T , LRG_766t1:c.11292C>T	NP_000531.2:p.Tyr3764=
NM_001042723.1:c.11277C>T	NP_001036188.1:p.Tyr3759=
XM_006723317.1:c.11292C>T	XP_006723380.1:p.Tyr3764=
XM_006723319.1:c.11277C>T	XP_006723382.1:p.Tyr3759=
XM_011527204.1:c.11289C>T	XP_011525506.1:p.Tyr3763=
XM_011527205.1:c.11292C>T	XP_011525507.1:p.Tyr3764=
XM_006723317.2:c.11292C>T	XP_006723380.1:p.Tyr3764=
XM_006723319.2:c.11277C>T	XP_006723382.1:p.Tyr3759=
XM_011527205.2:c.11292C>T	XP_011525507.1:p.Tyr3764=
NM_000540.3:c.11292C>T MANE Select	NP_000531.2:p.Tyr3764=
NM_001042723.2:c.11277C>T	NP_001036188.1:p.Tyr3759=