Canonical Allele Identifier: CA2539710465

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584619_38584620insC , CM000681.2:g.38584619_38584620insC	GRCh38
NC_000019.9:g.39075259_39075260insC , CM000681.1:g.39075259_39075260insC	GRCh37
NC_000019.8:g.43767099_43767100insC	NCBI36
NG_008866.1:g.155920_155921insC , LRG_766:g.155920_155921insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-324_1583-323insC
ENST00000688602.1:c.2980-324_2980-323insC
ENST00000689936.1:c.2952-324_2952-323insC
ENST00000359596.8:c.14647-324_14647-323insC MANE Select	ENSP00000352608.2:n.14647-324_14647-323insC
ENST00000355481.8:c.14632-324_14632-323insC	ENSP00000347667.3:n.14632-324_14632-323insC
ENST00000359596.7:c.14647-324_14647-323insC	ENSP00000352608.2:n.14647-324_14647-323insC
ENST00000360985.7:c.14629-324_14629-323insC	ENSP00000354254.4:n.14629-324_14629-323insC
NM_000540.2:c.14647-324_14647-323insC , LRG_766t1:c.14647-324_14647-323insC	NP_000531.2:n.14647-324_14647-323insC
NM_001042723.1:c.14632-324_14632-323insC	NP_001036188.1:n.14632-324_14632-323insC
XM_006723317.1:c.14629-324_14629-323insC	XP_006723380.1:n.14629-324_14629-323insC
XM_006723319.1:c.14614-324_14614-323insC	XP_006723382.1:n.14614-324_14614-323insC
XM_011527204.1:c.14644-324_14644-323insC	XP_011525506.1:n.14644-324_14644-323insC
XM_011527205.1:c.14560-324_14560-323insC	XP_011525507.1:n.14560-324_14560-323insC
XM_006723317.2:c.14629-324_14629-323insC	XP_006723380.1:n.14629-324_14629-323insC
XM_006723319.2:c.14614-324_14614-323insC	XP_006723382.1:n.14614-324_14614-323insC
XM_011527205.2:c.14560-324_14560-323insC	XP_011525507.1:n.14560-324_14560-323insC
NM_000540.3:c.14647-324_14647-323insC MANE Select	NP_000531.2:n.14647-324_14647-323insC
NM_001042723.2:c.14632-324_14632-323insC	NP_001036188.1:n.14632-324_14632-323insC