Canonical Allele Identifier: CA405692064

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1059238
• ClinVar RCV Id: RCV001368477 ; RCV002476680 ; RCV003132478 ; RCV004006811
• dbSNP Id: rs201588259
• gnomAD v2: 19-39008109-A-T
• gnomAD v3: 19-38517469-A-T
• gnomAD v4: 19-38517469-A-T
• MyVariant Identifiers: chr19:g.39008109A>T (hg19) ; chr19:g.38517469A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517469A>T , CM000681.2:g.38517469A>T	GRCh38
NC_000019.9:g.39008109A>T , CM000681.1:g.39008109A>T	GRCh37
NC_000019.8:g.43699949A>T	NCBI36
NG_008866.1:g.88770A>T , LRG_766:g.88770A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9735A>T	ENSP00000471601.2:n.9735A>T
ENST00000359596.8:c.9796A>T MANE Select	ENSP00000352608.2:p.Met3266Leu
ENST00000355481.8:c.9796A>T	ENSP00000347667.3:p.Met3266Leu
ENST00000359596.7:c.9796A>T	ENSP00000352608.2:p.Met3266Leu
ENST00000360985.7:c.9793A>T	ENSP00000354254.4:p.Met3265Leu
ENST00000594335.5:c.3198A>T
ENST00000599547.5:c.603A>T
NM_000540.2:c.9796A>T , LRG_766t1:c.9796A>T	NP_000531.2:p.Met3266Leu
NM_001042723.1:c.9796A>T	NP_001036188.1:p.Met3266Leu
XM_006723317.1:c.9796A>T	XP_006723380.1:p.Met3266Leu
XM_006723319.1:c.9796A>T	XP_006723382.1:p.Met3266Leu
XM_011527204.1:c.9793A>T	XP_011525506.1:p.Met3265Leu
XM_011527205.1:c.9796A>T	XP_011525507.1:p.Met3266Leu
XM_006723317.2:c.9796A>T	XP_006723380.1:p.Met3266Leu
XM_006723319.2:c.9796A>T	XP_006723382.1:p.Met3266Leu
XM_011527205.2:c.9796A>T	XP_011525507.1:p.Met3266Leu
NM_000540.3:c.9796A>T MANE Select	NP_000531.2:p.Met3266Leu
NM_001042723.2:c.9796A>T	NP_001036188.1:p.Met3266Leu