Canonical Allele Identifier: CA069089

Gene: RYR1

Linked Data

• ClinVar Variation Id: 792399
• ClinVar RCV Id: RCV001486249
• dbSNP Id: rs777800935
• ExAC: 19:38990306 G / T
• gnomAD v2: 19-38990306-G-T
• gnomAD v4: 19-38499666-G-T
• MyVariant Identifiers: chr19:g.38990306G>T (hg19) ; chr19:g.38499666G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499666G>T , CM000681.2:g.38499666G>T	GRCh38
NC_000019.9:g.38990306G>T , CM000681.1:g.38990306G>T	GRCh37
NC_000019.8:g.43682146G>T	NCBI36
NG_008866.1:g.70967G>T , LRG_766:g.70967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7059G>T	ENSP00000471601.2:p.Val2353=
ENST00000359596.8:c.7059G>T MANE Select	ENSP00000352608.2:p.Val2353=
ENST00000355481.8:c.7059G>T	ENSP00000347667.3:p.Val2353=
ENST00000359596.7:c.7059G>T	ENSP00000352608.2:p.Val2353=
ENST00000360985.7:c.7056G>T	ENSP00000354254.4:p.Val2352=
ENST00000594335.5:c.511G>T
NM_000540.2:c.7059G>T , LRG_766t1:c.7059G>T	NP_000531.2:p.Val2353=
NM_001042723.1:c.7059G>T	NP_001036188.1:p.Val2353=
XM_006723317.1:c.7059G>T	XP_006723380.1:p.Val2353=
XM_006723319.1:c.7059G>T	XP_006723382.1:p.Val2353=
XM_011527204.1:c.7056G>T	XP_011525506.1:p.Val2352=
XM_011527205.1:c.7059G>T	XP_011525507.1:p.Val2353=
XM_006723317.2:c.7059G>T	XP_006723380.1:p.Val2353=
XM_006723319.2:c.7059G>T	XP_006723382.1:p.Val2353=
XM_011527205.2:c.7059G>T	XP_011525507.1:p.Val2353=
XR_001753735.1:n.7142G>T
NM_000540.3:c.7059G>T MANE Select	NP_000531.2:p.Val2353=
NM_001042723.2:c.7059G>T	NP_001036188.1:p.Val2353=