Canonical Allele Identifier: CA2697556551

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2719720
• ClinVar RCV Id: RCV003592868

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502611_38502660dup , CM000681.2:g.38502611_38502660dup	GRCh38
NC_000019.9:g.38993251_38993300dup , CM000681.1:g.38993251_38993300dup	GRCh37
NC_000019.8:g.43685091_43685140dup	NCBI36
NG_008866.1:g.73912_73961dup , LRG_766:g.73912_73961dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7719_7768dup	ENSP00000471601.2:p.Ser2590TyrfsTer?
ENST00000359596.8:c.7719_7768dup MANE Select	ENSP00000352608.2:p.Ser2590TyrfsTer?
ENST00000355481.8:c.7719_7768dup	ENSP00000347667.3:p.Ser2590TyrfsTer?
ENST00000359596.7:c.7719_7768dup	ENSP00000352608.2:p.Ser2590TyrfsTer?
ENST00000360985.7:c.7716_7765dup	ENSP00000354254.4:p.Ser2589TyrfsTer?
ENST00000594335.5:c.1171_1220dup
NM_000540.2:c.7719_7768dup , LRG_766t1:c.7719_7768dup	NP_000531.2:p.Ser2590TyrfsTer?
NM_001042723.1:c.7719_7768dup	NP_001036188.1:p.Ser2590TyrfsTer?
XM_006723317.1:c.7719_7768dup	XP_006723380.1:p.Ser2590TyrfsTer?
XM_006723319.1:c.7719_7768dup	XP_006723382.1:p.Ser2590TyrfsTer?
XM_011527204.1:c.7716_7765dup	XP_011525506.1:p.Ser2589TyrfsTer?
XM_011527205.1:c.7719_7768dup	XP_011525507.1:p.Ser2590TyrfsTer?
XM_006723317.2:c.7719_7768dup	XP_006723380.1:p.Ser2590TyrfsTer?
XM_006723319.2:c.7719_7768dup	XP_006723382.1:p.Ser2590TyrfsTer?
XM_011527205.2:c.7719_7768dup	XP_011525507.1:p.Ser2590TyrfsTer?
XR_001753735.1:n.7802_7851dup
NM_000540.3:c.7719_7768dup MANE Select	NP_000531.2:p.Ser2590TyrfsTer?
NM_001042723.2:c.7719_7768dup	NP_001036188.1:p.Ser2590TyrfsTer?