Canonical Allele Identifier: CA1139666425

Gene: RYR1

Linked Data

• ClinVar Variation Id: 987227
• ClinVar RCV Id: RCV001268520
• dbSNP Id: rs1970341946

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38504339_38504357dup , CM000681.2:g.38504339_38504357dup	GRCh38
NC_000019.9:g.38994979_38994997dup , CM000681.1:g.38994979_38994997dup	GRCh37
NC_000019.8:g.43686819_43686837dup	NCBI36
NG_008866.1:g.75640_75658dup , LRG_766:g.75640_75658dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.8046_8064dup	ENSP00000471601.2:p.Lys2689LeufsTer2
ENST00000359596.8:c.8046_8064dup MANE Select	ENSP00000352608.2:p.Lys2689LeufsTer2
ENST00000355481.8:c.8046_8064dup	ENSP00000347667.3:p.Lys2689LeufsTer2
ENST00000359596.7:c.8046_8064dup	ENSP00000352608.2:p.Lys2689LeufsTer2
ENST00000360985.7:c.8043_8061dup	ENSP00000354254.4:p.Lys2688LeufsTer2
ENST00000594335.5:c.1498_1516dup
NM_000540.2:c.8046_8064dup , LRG_766t1:c.8046_8064dup	NP_000531.2:p.Lys2689LeufsTer2
NM_001042723.1:c.8046_8064dup	NP_001036188.1:p.Lys2689LeufsTer2
XM_006723317.1:c.8046_8064dup	XP_006723380.1:p.Lys2689LeufsTer2
XM_006723319.1:c.8046_8064dup	XP_006723382.1:p.Lys2689LeufsTer2
XM_011527204.1:c.8043_8061dup	XP_011525506.1:p.Lys2688LeufsTer2
XM_011527205.1:c.8046_8064dup	XP_011525507.1:p.Lys2689LeufsTer2
XM_006723317.2:c.8046_8064dup	XP_006723380.1:p.Lys2689LeufsTer2
XM_006723319.2:c.8046_8064dup	XP_006723382.1:p.Lys2689LeufsTer2
XM_011527205.2:c.8046_8064dup	XP_011525507.1:p.Lys2689LeufsTer2
XR_001753735.1:n.8129_8147dup
NM_000540.3:c.8046_8064dup MANE Select	NP_000531.2:p.Lys2689LeufsTer2
NM_001042723.2:c.8046_8064dup	NP_001036188.1:p.Lys2689LeufsTer2