Canonical Allele Identifier: CA658658809

Gene: RYR1

Linked Data

• ClinVar Variation Id: 478278
• ClinVar RCV Id: RCV000548832
• dbSNP Id: rs1555784450

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502733_38502763delinsAGC , CM000681.2:g.38502733_38502763delinsAGC	GRCh38
NC_000019.9:g.38993373_38993403delinsAGC , CM000681.1:g.38993373_38993403delinsAGC	GRCh37
NC_000019.8:g.43685213_43685243delinsAGC	NCBI36
NG_008866.1:g.74034_74064delinsAGC , LRG_766:g.74034_74064delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+6_7835+36delinsAGC	ENSP00000471601.2:n.7835+6_7835+36delinsAGC
ENST00000359596.8:c.7835+6_7835+36delinsAGC MANE Select	ENSP00000352608.2:n.7835+6_7835+36delinsAGC
ENST00000355481.8:c.7835+6_7835+36delinsAGC	ENSP00000347667.3:n.7835+6_7835+36delinsAGC
ENST00000359596.7:c.7835+6_7835+36delinsAGC	ENSP00000352608.2:n.7835+6_7835+36delinsAGC
ENST00000360985.7:c.7832+6_7832+36delinsAGC	ENSP00000354254.4:n.7832+6_7832+36delinsAGC
ENST00000594335.5:c.1287+6_1287+36delinsAGC
NM_000540.2:c.7835+6_7835+36delinsAGC , LRG_766t1:c.7835+6_7835+36delinsAGC	NP_000531.2:n.7835+6_7835+36delinsAGC
NM_001042723.1:c.7835+6_7835+36delinsAGC	NP_001036188.1:n.7835+6_7835+36delinsAGC
XM_006723317.1:c.7835+6_7835+36delinsAGC	XP_006723380.1:n.7835+6_7835+36delinsAGC
XM_006723319.1:c.7835+6_7835+36delinsAGC	XP_006723382.1:n.7835+6_7835+36delinsAGC
XM_011527204.1:c.7832+6_7832+36delinsAGC	XP_011525506.1:n.7832+6_7832+36delinsAGC
XM_011527205.1:c.7835+6_7835+36delinsAGC	XP_011525507.1:n.7835+6_7835+36delinsAGC
XM_006723317.2:c.7835+6_7835+36delinsAGC	XP_006723380.1:n.7835+6_7835+36delinsAGC
XM_006723319.2:c.7835+6_7835+36delinsAGC	XP_006723382.1:n.7835+6_7835+36delinsAGC
XM_011527205.2:c.7835+6_7835+36delinsAGC	XP_011525507.1:n.7835+6_7835+36delinsAGC
XR_001753735.1:n.7918+6_7918+36delinsAGC
NM_000540.3:c.7835+6_7835+36delinsAGC MANE Select	NP_000531.2:n.7835+6_7835+36delinsAGC
NM_001042723.2:c.7835+6_7835+36delinsAGC	NP_001036188.1:n.7835+6_7835+36delinsAGC