Canonical Allele Identifier: CA2573054762

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1323542
• ClinVar RCV Id: RCV001784925 ; RCV004017866
• dbSNP Id: rs2145895408

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580107dup , CM000681.2:g.38580107dup	GRCh38
NC_000019.9:g.39070747dup , CM000681.1:g.39070747dup	GRCh37
NC_000019.8:g.43762587dup	NCBI36
NG_008866.1:g.151408dup , LRG_766:g.151408dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1426dup
ENST00000688602.1:c.2823dup
ENST00000689936.1:c.2795dup
ENST00000359596.8:c.14490dup MANE Select	ENSP00000352608.2:p.Val4831CysfsTer?
ENST00000355481.8:c.14475dup	ENSP00000347667.3:p.Val4826CysfsTer?
ENST00000359596.7:c.14490dup	ENSP00000352608.2:p.Val4831CysfsTer?
ENST00000360985.7:c.14472dup	ENSP00000354254.4:p.Val4825CysfsTer?
NM_000540.2:c.14490dup , LRG_766t1:c.14490dup	NP_000531.2:p.Val4831CysfsTer?
NM_001042723.1:c.14475dup	NP_001036188.1:p.Val4826CysfsTer?
XM_006723317.1:c.14472dup	XP_006723380.1:p.Val4825CysfsTer?
XM_006723319.1:c.14457dup	XP_006723382.1:p.Val4820CysfsTer?
XM_011527204.1:c.14487dup	XP_011525506.1:p.Val4830CysfsTer?
XM_011527205.1:c.14403dup	XP_011525507.1:p.Val4802CysfsTer?
XM_006723317.2:c.14472dup	XP_006723380.1:p.Val4825CysfsTer?
XM_006723319.2:c.14457dup	XP_006723382.1:p.Val4820CysfsTer?
XM_011527205.2:c.14403dup	XP_011525507.1:p.Val4802CysfsTer?
NM_000540.3:c.14490dup MANE Select	NP_000531.2:p.Val4831CysfsTer?
NM_001042723.2:c.14475dup	NP_001036188.1:p.Val4826CysfsTer?