Canonical Allele Identifier: CA2740096889

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2976813
• ClinVar RCV Id: RCV003838947

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543855dup , CM000681.2:g.38543855dup	GRCh38
NC_000019.9:g.39034495dup , CM000681.1:g.39034495dup	GRCh37
NC_000019.8:g.43726335dup	NCBI36
NG_008866.1:g.115156dup , LRG_766:g.115156dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.402dup
ENST00000689936.1:c.384dup
ENST00000359596.8:c.11992dup MANE Select	ENSP00000352608.2:p.Met3998AsnfsTer?
ENST00000355481.8:c.11977dup	ENSP00000347667.3:p.Met3993AsnfsTer?
ENST00000359596.7:c.11992dup	ENSP00000352608.2:p.Met3998AsnfsTer?
ENST00000360985.7:c.11974dup	ENSP00000354254.4:p.Met3992AsnfsTer?
ENST00000593322.1:c.601dup
ENST00000594335.5:c.5361dup
NM_000540.2:c.11992dup , LRG_766t1:c.11992dup	NP_000531.2:p.Met3998AsnfsTer?
NM_001042723.1:c.11977dup	NP_001036188.1:p.Met3993AsnfsTer?
XM_006723317.1:c.11974dup	XP_006723380.1:p.Met3992AsnfsTer?
XM_006723319.1:c.11959dup	XP_006723382.1:p.Met3987AsnfsTer?
XM_011527204.1:c.11989dup	XP_011525506.1:p.Met3997AsnfsTer?
XM_011527205.1:c.11992dup	XP_011525507.1:p.Met3998AsnfsTer?
XM_006723317.2:c.11974dup	XP_006723380.1:p.Met3992AsnfsTer?
XM_006723319.2:c.11959dup	XP_006723382.1:p.Met3987AsnfsTer?
XM_011527205.2:c.11992dup	XP_011525507.1:p.Met3998AsnfsTer?
NM_000540.3:c.11992dup MANE Select	NP_000531.2:p.Met3998AsnfsTer?
NM_001042723.2:c.11977dup	NP_001036188.1:p.Met3993AsnfsTer?