Canonical Allele Identifier: CA2335054574

Gene: RYR1

Linked Data

• dbSNP Id: rs1568506367
• gnomAD v4: 19-38502774-C-CAGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502779_38502780insTAGGGG , CM000681.2:g.38502779_38502780insTAGGGG	GRCh38
NC_000019.9:g.38993419_38993420insTAGGGG , CM000681.1:g.38993419_38993420insTAGGGG	GRCh37
NC_000019.8:g.43685259_43685260insTAGGGG	NCBI36
NG_008866.1:g.74080_74081insTAGGGG , LRG_766:g.74080_74081insTAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+52_7835+53insTAGGGG	ENSP00000471601.2:n.7835+52_7835+53insTAGGGG
ENST00000359596.8:c.7835+52_7835+53insTAGGGG MANE Select	ENSP00000352608.2:n.7835+52_7835+53insTAGGGG
ENST00000355481.8:c.7835+52_7835+53insTAGGGG	ENSP00000347667.3:n.7835+52_7835+53insTAGGGG
ENST00000359596.7:c.7835+52_7835+53insTAGGGG	ENSP00000352608.2:n.7835+52_7835+53insTAGGGG
ENST00000360985.7:c.7832+52_7832+53insTAGGGG	ENSP00000354254.4:n.7832+52_7832+53insTAGGGG
ENST00000594335.5:c.1287+52_1287+53insTAGGGG
NM_000540.2:c.7835+52_7835+53insTAGGGG , LRG_766t1:c.7835+52_7835+53insTAGGGG	NP_000531.2:n.7835+52_7835+53insTAGGGG
NM_001042723.1:c.7835+52_7835+53insTAGGGG	NP_001036188.1:n.7835+52_7835+53insTAGGGG
XM_006723317.1:c.7835+52_7835+53insTAGGGG	XP_006723380.1:n.7835+52_7835+53insTAGGGG
XM_006723319.1:c.7835+52_7835+53insTAGGGG	XP_006723382.1:n.7835+52_7835+53insTAGGGG
XM_011527204.1:c.7832+52_7832+53insTAGGGG	XP_011525506.1:n.7832+52_7832+53insTAGGGG
XM_011527205.1:c.7835+52_7835+53insTAGGGG	XP_011525507.1:n.7835+52_7835+53insTAGGGG
XM_006723317.2:c.7835+52_7835+53insTAGGGG	XP_006723380.1:n.7835+52_7835+53insTAGGGG
XM_006723319.2:c.7835+52_7835+53insTAGGGG	XP_006723382.1:n.7835+52_7835+53insTAGGGG
XM_011527205.2:c.7835+52_7835+53insTAGGGG	XP_011525507.1:n.7835+52_7835+53insTAGGGG
XR_001753735.1:n.7918+52_7918+53insTAGGGG
NM_000540.3:c.7835+52_7835+53insTAGGGG MANE Select	NP_000531.2:n.7835+52_7835+53insTAGGGG
NM_001042723.2:c.7835+52_7835+53insTAGGGG	NP_001036188.1:n.7835+52_7835+53insTAGGGG