Canonical Allele Identifier: CA405683573

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1421397
• ClinVar RCV Id: RCV001923757 ; RCV002491919 ; RCV004010893
• dbSNP Id: rs1970687243
• gnomAD v4: 19-38510666-C-T
• MyVariant Identifiers: chr19:g.39001306C>T (hg19) ; chr19:g.38510666C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38510666C>T , CM000681.2:g.38510666C>T	GRCh38
NC_000019.9:g.39001306C>T , CM000681.1:g.39001306C>T	GRCh37
NC_000019.8:g.43693146C>T	NCBI36
NG_008866.1:g.81967C>T , LRG_766:g.81967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9007C>T	ENSP00000471601.2:p.Leu3003Phe
ENST00000359596.8:c.9007C>T MANE Select	ENSP00000352608.2:p.Leu3003Phe
ENST00000355481.8:c.9007C>T	ENSP00000347667.3:p.Leu3003Phe
ENST00000359596.7:c.9007C>T	ENSP00000352608.2:p.Leu3003Phe
ENST00000360985.7:c.9004C>T	ENSP00000354254.4:p.Leu3002Phe
ENST00000594335.5:c.2459C>T
NM_000540.2:c.9007C>T , LRG_766t1:c.9007C>T	NP_000531.2:p.Leu3003Phe
NM_001042723.1:c.9007C>T	NP_001036188.1:p.Leu3003Phe
XM_006723317.1:c.9007C>T	XP_006723380.1:p.Leu3003Phe
XM_006723319.1:c.9007C>T	XP_006723382.1:p.Leu3003Phe
XM_011527204.1:c.9004C>T	XP_011525506.1:p.Leu3002Phe
XM_011527205.1:c.9007C>T	XP_011525507.1:p.Leu3003Phe
XM_006723317.2:c.9007C>T	XP_006723380.1:p.Leu3003Phe
XM_006723319.2:c.9007C>T	XP_006723382.1:p.Leu3003Phe
XM_011527205.2:c.9007C>T	XP_011525507.1:p.Leu3003Phe
XR_001753735.1:n.9090C>T
NM_000540.3:c.9007C>T MANE Select	NP_000531.2:p.Leu3003Phe
NM_001042723.2:c.9007C>T	NP_001036188.1:p.Leu3003Phe