Canonical Allele Identifier: CA061035

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329136
• ClinVar RCV Id: RCV000310165 ; RCV000339321 ; RCV000345135 ; RCV000401414 ; RCV000556274 ; RCV003133228
• dbSNP Id: rs201157293
• ExAC: 19:39068668 G / A
• gnomAD v2: 19-39068668-G-A
• gnomAD v3: 19-38578028-G-A
• gnomAD v4: 19-38578028-G-A
• MyVariant Identifiers: chr19:g.39068668G>A (hg19) ; chr19:g.38578028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38578028G>A , CM000681.2:g.38578028G>A	GRCh38
NC_000019.9:g.39068668G>A , CM000681.1:g.39068668G>A	GRCh37
NC_000019.8:g.43760508G>A	NCBI36
NG_008866.1:g.149329G>A , LRG_766:g.149329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1219G>A
ENST00000688602.1:c.2616G>A
ENST00000689936.1:c.2588G>A
ENST00000359596.8:c.14283G>A MANE Select	ENSP00000352608.2:p.Pro4761=
ENST00000355481.8:c.14268G>A	ENSP00000347667.3:p.Pro4756=
ENST00000359596.7:c.14283G>A	ENSP00000352608.2:p.Pro4761=
ENST00000360985.7:c.14265G>A	ENSP00000354254.4:p.Pro4755=
NM_000540.2:c.14283G>A , LRG_766t1:c.14283G>A	NP_000531.2:p.Pro4761=
NM_001042723.1:c.14268G>A	NP_001036188.1:p.Pro4756=
XM_006723317.1:c.14265G>A	XP_006723380.1:p.Pro4755=
XM_006723319.1:c.14250G>A	XP_006723382.1:p.Pro4750=
XM_011527204.1:c.14280G>A	XP_011525506.1:p.Pro4760=
XM_011527205.1:c.14196G>A	XP_011525507.1:p.Pro4732=
XM_006723317.2:c.14265G>A	XP_006723380.1:p.Pro4755=
XM_006723319.2:c.14250G>A	XP_006723382.1:p.Pro4750=
XM_011527205.2:c.14196G>A	XP_011525507.1:p.Pro4732=
NM_000540.3:c.14283G>A MANE Select	NP_000531.2:p.Pro4761=
NM_001042723.2:c.14268G>A	NP_001036188.1:p.Pro4756=