Canonical Allele Identifier: CA632870123

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38546495_38546496dup , CM000681.2:g.38546495_38546496dup	GRCh38
NC_000019.9:g.39037135_39037136dup , CM000681.1:g.39037135_39037136dup	GRCh37
NC_000019.8:g.43728975_43728976dup	NCBI36
NG_008866.1:g.117796_117797dup , LRG_766:g.117796_117797dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.12063_12064dup MANE Select	NP_000531.2:p.Met4022ThrfsTer4
ENST00000359596.8:c.12063_12064dup MANE Select	ENSP00000352608.2:p.Met4022ThrfsTer4
NM_000540.2:c.12063_12064dup , LRG_766t1:c.12063_12064dup	NP_000531.2:p.Met4022ThrfsTer4
NM_001042723.1:c.12048_12049dup	NP_001036188.1:p.Met4017ThrfsTer4
NM_001042723.2:c.12048_12049dup	NP_001036188.1:p.Met4017ThrfsTer4
ENST00000355481.8:c.12048_12049dup	ENSP00000347667.3:p.Met4017ThrfsTer4
ENST00000359596.7:c.12063_12064dup	ENSP00000352608.2:p.Met4022ThrfsTer4
ENST00000360985.7:c.12045_12046dup	ENSP00000354254.4:p.Met4016ThrfsTer4
ENST00000593322.1:c.672_673dup
ENST00000594335.5:c.5432_5433dup
ENST00000688602.1:c.473_474dup
ENST00000689936.1:c.455_456dup
XM_006723317.1:c.12045_12046dup	XP_006723380.1:p.Met4016ThrfsTer4
XM_006723317.2:c.12045_12046dup	XP_006723380.1:p.Met4016ThrfsTer4
XM_006723319.1:c.12030_12031dup	XP_006723382.1:p.Met4011ThrfsTer4
XM_006723319.2:c.12030_12031dup	XP_006723382.1:p.Met4011ThrfsTer4
XM_011527204.1:c.12060_12061dup	XP_011525506.1:p.Met4021ThrfsTer4
XM_011527205.1:c.12063_12064dup	XP_011525507.1:p.Met4022ThrfsTer4
XM_011527205.2:c.12063_12064dup	XP_011525507.1:p.Met4022ThrfsTer4