Canonical Allele Identifier: CA405692527

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2173205
• ClinVar RCV Id: RCV002574542 ; RCV004009438
• dbSNP Id: rs144135230
• gnomAD v4: 19-38517547-C-A
• MyVariant Identifiers: chr19:g.39008187C>A (hg19) ; chr19:g.38517547C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517547C>A , CM000681.2:g.38517547C>A	GRCh38
NC_000019.9:g.39008187C>A , CM000681.1:g.39008187C>A	GRCh37
NC_000019.8:g.43700027C>A	NCBI36
NG_008866.1:g.88848C>A , LRG_766:g.88848C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9813C>A	ENSP00000471601.2:n.9813C>A
ENST00000359596.8:c.9874C>A MANE Select	ENSP00000352608.2:p.Pro3292Thr
ENST00000355481.8:c.9874C>A	ENSP00000347667.3:p.Pro3292Thr
ENST00000359596.7:c.9874C>A	ENSP00000352608.2:p.Pro3292Thr
ENST00000360985.7:c.9871C>A	ENSP00000354254.4:p.Pro3291Thr
ENST00000594335.5:c.3276C>A
ENST00000599547.5:c.681C>A
NM_000540.2:c.9874C>A , LRG_766t1:c.9874C>A	NP_000531.2:p.Pro3292Thr
NM_001042723.1:c.9874C>A	NP_001036188.1:p.Pro3292Thr
XM_006723317.1:c.9874C>A	XP_006723380.1:p.Pro3292Thr
XM_006723319.1:c.9874C>A	XP_006723382.1:p.Pro3292Thr
XM_011527204.1:c.9871C>A	XP_011525506.1:p.Pro3291Thr
XM_011527205.1:c.9874C>A	XP_011525507.1:p.Pro3292Thr
XM_006723317.2:c.9874C>A	XP_006723380.1:p.Pro3292Thr
XM_006723319.2:c.9874C>A	XP_006723382.1:p.Pro3292Thr
XM_011527205.2:c.9874C>A	XP_011525507.1:p.Pro3292Thr
NM_000540.3:c.9874C>A MANE Select	NP_000531.2:p.Pro3292Thr
NM_001042723.2:c.9874C>A	NP_001036188.1:p.Pro3292Thr