Canonical Allele Identifier: CA995719461

Gene: RYR1

Linked Data

• dbSNP Id: rs1970273473
• gnomAD v3: 19-38503096-G-GCGTCCC
• gnomAD v4: 19-38503096-G-GCGTCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38503100_38503105dup , CM000681.2:g.38503100_38503105dup	GRCh38
NC_000019.9:g.38993740_38993745dup , CM000681.1:g.38993740_38993745dup	GRCh37
NC_000019.8:g.43685580_43685585dup	NCBI36
NG_008866.1:g.74401_74406dup , LRG_766:g.74401_74406dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7926+130_7926+135dup	ENSP00000471601.2:n.7926+130_7926+135dup
ENST00000359596.8:c.7926+130_7926+135dup MANE Select	ENSP00000352608.2:n.7926+130_7926+135dup
ENST00000355481.8:c.7926+130_7926+135dup	ENSP00000347667.3:n.7926+130_7926+135dup
ENST00000359596.7:c.7926+130_7926+135dup	ENSP00000352608.2:n.7926+130_7926+135dup
ENST00000360985.7:c.7923+130_7923+135dup	ENSP00000354254.4:n.7923+130_7923+135dup
ENST00000594335.5:c.1378+130_1378+135dup
NM_000540.2:c.7926+130_7926+135dup , LRG_766t1:c.7926+130_7926+135dup	NP_000531.2:n.7926+130_7926+135dup
NM_001042723.1:c.7926+130_7926+135dup	NP_001036188.1:n.7926+130_7926+135dup
XM_006723317.1:c.7926+130_7926+135dup	XP_006723380.1:n.7926+130_7926+135dup
XM_006723319.1:c.7926+130_7926+135dup	XP_006723382.1:n.7926+130_7926+135dup
XM_011527204.1:c.7923+130_7923+135dup	XP_011525506.1:n.7923+130_7923+135dup
XM_011527205.1:c.7926+130_7926+135dup	XP_011525507.1:n.7926+130_7926+135dup
XM_006723317.2:c.7926+130_7926+135dup	XP_006723380.1:n.7926+130_7926+135dup
XM_006723319.2:c.7926+130_7926+135dup	XP_006723382.1:n.7926+130_7926+135dup
XM_011527205.2:c.7926+130_7926+135dup	XP_011525507.1:n.7926+130_7926+135dup
XR_001753735.1:n.8009+130_8009+135dup
NM_000540.3:c.7926+130_7926+135dup MANE Select	NP_000531.2:n.7926+130_7926+135dup
NM_001042723.2:c.7926+130_7926+135dup	NP_001036188.1:n.7926+130_7926+135dup