Canonical Allele Identifier: CA995742725

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584551_38584584dup , CM000681.2:g.38584551_38584584dup	GRCh38
NC_000019.9:g.39075191_39075224dup , CM000681.1:g.39075191_39075224dup	GRCh37
NC_000019.8:g.43767031_43767064dup	NCBI36
NG_008866.1:g.155852_155885dup , LRG_766:g.155852_155885dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-392_1583-359dup
ENST00000688602.1:c.2980-392_2980-359dup
ENST00000689936.1:c.2952-392_2952-359dup
ENST00000359596.8:c.14647-392_14647-359dup MANE Select	ENSP00000352608.2:n.14647-392_14647-359dup
ENST00000355481.8:c.14632-392_14632-359dup	ENSP00000347667.3:n.14632-392_14632-359dup
ENST00000359596.7:c.14647-392_14647-359dup	ENSP00000352608.2:n.14647-392_14647-359dup
ENST00000360985.7:c.14629-392_14629-359dup	ENSP00000354254.4:n.14629-392_14629-359dup
NM_000540.2:c.14647-392_14647-359dup , LRG_766t1:c.14647-392_14647-359dup	NP_000531.2:n.14647-392_14647-359dup
NM_001042723.1:c.14632-392_14632-359dup	NP_001036188.1:n.14632-392_14632-359dup
XM_006723317.1:c.14629-392_14629-359dup	XP_006723380.1:n.14629-392_14629-359dup
XM_006723319.1:c.14614-392_14614-359dup	XP_006723382.1:n.14614-392_14614-359dup
XM_011527204.1:c.14644-392_14644-359dup	XP_011525506.1:n.14644-392_14644-359dup
XM_011527205.1:c.14560-392_14560-359dup	XP_011525507.1:n.14560-392_14560-359dup
XM_006723317.2:c.14629-392_14629-359dup	XP_006723380.1:n.14629-392_14629-359dup
XM_006723319.2:c.14614-392_14614-359dup	XP_006723382.1:n.14614-392_14614-359dup
XM_011527205.2:c.14560-392_14560-359dup	XP_011525507.1:n.14560-392_14560-359dup
NM_000540.3:c.14647-392_14647-359dup MANE Select	NP_000531.2:n.14647-392_14647-359dup
NM_001042723.2:c.14632-392_14632-359dup	NP_001036188.1:n.14632-392_14632-359dup