Canonical Allele Identifier: CA645612039

Gene: RYR1

Linked Data

• COSMIC: COSM3222461

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499911dup , CM000681.2:g.38499911dup	GRCh38
NC_000019.9:g.38990551dup , CM000681.1:g.38990551dup	GRCh37
NC_000019.8:g.43682391dup	NCBI36
NG_008866.1:g.71212dup , LRG_766:g.71212dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7218dup	ENSP00000471601.2:p.Gly2407TrpfsTer2
ENST00000359596.8:c.7218dup MANE Select	ENSP00000352608.2:p.Gly2407TrpfsTer2
ENST00000355481.8:c.7218dup	ENSP00000347667.3:p.Gly2407TrpfsTer2
ENST00000359596.7:c.7218dup	ENSP00000352608.2:p.Gly2407TrpfsTer2
ENST00000360985.7:c.7215dup	ENSP00000354254.4:p.Gly2406TrpfsTer2
ENST00000594335.5:c.670dup
NM_000540.2:c.7218dup , LRG_766t1:c.7218dup	NP_000531.2:p.Gly2407TrpfsTer2
NM_001042723.1:c.7218dup	NP_001036188.1:p.Gly2407TrpfsTer2
XM_006723317.1:c.7218dup	XP_006723380.1:p.Gly2407TrpfsTer2
XM_006723319.1:c.7218dup	XP_006723382.1:p.Gly2407TrpfsTer2
XM_011527204.1:c.7215dup	XP_011525506.1:p.Gly2406TrpfsTer2
XM_011527205.1:c.7218dup	XP_011525507.1:p.Gly2407TrpfsTer2
XM_006723317.2:c.7218dup	XP_006723380.1:p.Gly2407TrpfsTer2
XM_006723319.2:c.7218dup	XP_006723382.1:p.Gly2407TrpfsTer2
XM_011527205.2:c.7218dup	XP_011525507.1:p.Gly2407TrpfsTer2
XR_001753735.1:n.7301dup
NM_000540.3:c.7218dup MANE Select	NP_000531.2:p.Gly2407TrpfsTer2
NM_001042723.2:c.7218dup	NP_001036188.1:p.Gly2407TrpfsTer2