Canonical Allele Identifier: CA915952996

Gene: RYR1

Linked Data

• ClinVar Variation Id: 659818
• ClinVar RCV Id: RCV000816877
• dbSNP Id: rs1600807622

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38496214_38496219dup , CM000681.2:g.38496214_38496219dup	GRCh38
NC_000019.9:g.38986854_38986859dup , CM000681.1:g.38986854_38986859dup	GRCh37
NC_000019.8:g.43678694_43678699dup	NCBI36
NG_008866.1:g.67515_67520dup , LRG_766:g.67515_67520dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6549-1_6553dup
ENST00000359596.8:c.6549-1_6553dup
ENST00000355481.8:c.6549-1_6553dup
ENST00000359596.7:c.6549-1_6553dup
ENST00000360985.7:c.6546-1_6550dup
NM_000540.2:c.6549-1_6553dup , LRG_766t1:c.6549-1_6553dup
NM_001042723.1:c.6549-1_6553dup
XM_006723317.1:c.6549-1_6553dup
XM_006723319.1:c.6549-1_6553dup
XM_011527204.1:c.6546-1_6550dup
XM_011527205.1:c.6549-1_6553dup
XM_006723317.2:c.6549-1_6553dup
XM_006723319.2:c.6549-1_6553dup
XM_011527205.2:c.6549-1_6553dup
XR_001753735.1:n.6632-1_6636dup
NM_000540.3:c.6549-1_6553dup
NM_001042723.2:c.6549-1_6553dup