Canonical Allele Identifier: CA060795

Gene: RYR1

Linked Data

• ClinVar Variation Id: 478195
• ClinVar RCV Id: RCV001078943 ; RCV000827374 ; RCV002497201 ; RCV003999489
• dbSNP Id: rs113058779
• ExAC: 19:39063888 G / A
• gnomAD v2: 19-39063888-G-A
• gnomAD v3: 19-38573248-G-A
• gnomAD v4: 19-38573248-G-A
• MyVariant Identifiers: chr19:g.39063888G>A (hg19) ; chr19:g.38573248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573248G>A , CM000681.2:g.38573248G>A	GRCh38
NC_000019.9:g.39063888G>A , CM000681.1:g.39063888G>A	GRCh37
NC_000019.8:g.43755728G>A	NCBI36
NG_008866.1:g.144549G>A , LRG_766:g.144549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1006G>A
ENST00000688602.1:c.2403G>A
ENST00000689936.1:c.2375G>A
ENST00000359596.8:c.14070G>A MANE Select	ENSP00000352608.2:p.Thr4690=
ENST00000355481.8:c.14055G>A	ENSP00000347667.3:p.Thr4685=
ENST00000359596.7:c.14070G>A	ENSP00000352608.2:p.Thr4690=
ENST00000360985.7:c.14052G>A	ENSP00000354254.4:p.Thr4684=
NM_000540.2:c.14070G>A , LRG_766t1:c.14070G>A	NP_000531.2:p.Thr4690=
NM_001042723.1:c.14055G>A	NP_001036188.1:p.Thr4685=
XM_006723317.1:c.14052G>A	XP_006723380.1:p.Thr4684=
XM_006723319.1:c.14037G>A	XP_006723382.1:p.Thr4679=
XM_011527204.1:c.14067G>A	XP_011525506.1:p.Thr4689=
XM_011527205.1:c.13983G>A	XP_011525507.1:p.Thr4661=
XM_006723317.2:c.14052G>A	XP_006723380.1:p.Thr4684=
XM_006723319.2:c.14037G>A	XP_006723382.1:p.Thr4679=
XM_011527205.2:c.13983G>A	XP_011525507.1:p.Thr4661=
NM_000540.3:c.14070G>A MANE Select	NP_000531.2:p.Thr4690=
NM_001042723.2:c.14055G>A	NP_001036188.1:p.Thr4685=