Canonical Allele Identifier: CA185857

Gene: RYR1

Linked Data

• ClinVar Variation Id: 12985
• ClinVar RCV Id: RCV000013857
• PubMed: PMID:14732627

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[38504319C>T;38505358C>G] , CM000681.2:g.[38504319C>T;38505358C>G]	GRCh38
NC_000019.9:g.[38994959C>T;38995998C>G] , CM000681.1:g.[38994959C>T;38995998C>G]	GRCh37
NC_000019.8:g.[43686799C>T;43687838C>G]	NCBI36
NG_008866.1:g.[75620C>T;76659C>G] , LRG_766:g.[75620C>T;76659C>G]

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.[8026C>T;8360C>G]	ENSP00000471601.2:p.[Arg2676Trp;Thr2787Se...
ENST00000359596.8:c.[8026C>T;8360C>G] MANE Select	ENSP00000352608.2:p.[Arg2676Trp;Thr2787Se...
ENST00000355481.8:c.[8026C>T;8360C>G]	ENSP00000347667.3:p.[Arg2676Trp;Thr2787Se...
ENST00000359596.7:c.[8026C>T;8360C>G]	ENSP00000352608.2:p.[Arg2676Trp;Thr2787Se...
ENST00000360985.7:c.[8023C>T;8357C>G]	ENSP00000354254.4:p.[Arg2675Trp;Thr2786Se...
ENST00000594335.5:c.[1478C>T;1812C>G]
NM_000540.2:c.[8026C>T;8360C>G] , LRG_766t1:c.[8026C>T;8360C>G]	NP_000531.2:p.[Arg2676Trp;Thr2787Ser]
NM_001042723.1:c.[8026C>T;8360C>G]	NP_001036188.1:p.[Arg2676Trp;Thr2787Ser]
XM_006723317.1:c.[8026C>T;8360C>G]	XP_006723380.1:p.[Arg2676Trp;Thr2787Ser]
XM_006723319.1:c.[8026C>T;8360C>G]	XP_006723382.1:p.[Arg2676Trp;Thr2787Ser]
XM_011527204.1:c.[8023C>T;8357C>G]	XP_011525506.1:p.[Arg2675Trp;Thr2786Ser]
XM_011527205.1:c.[8026C>T;8360C>G]	XP_011525507.1:p.[Arg2676Trp;Thr2787Ser]
XM_006723317.2:c.[8026C>T;8360C>G]	XP_006723380.1:p.[Arg2676Trp;Thr2787Ser]
XM_006723319.2:c.[8026C>T;8360C>G]	XP_006723382.1:p.[Arg2676Trp;Thr2787Ser]
XM_011527205.2:c.[8026C>T;8360C>G]	XP_011525507.1:p.[Arg2676Trp;Thr2787Ser]
XR_001753735.1:n.[8109C>T;8443C>G]
NM_000540.3:c.[8026C>T;8360C>G] MANE Select	NP_000531.2:p.[Arg2676Trp;Thr2787Ser]
NM_001042723.2:c.[8026C>T;8360C>G]	NP_001036188.1:p.[Arg2676Trp;Thr2787Ser]