Canonical Allele Identifier: CA2335051093

Gene: RYR1

Linked Data

• dbSNP Id: rs1969810761

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38496162dup , CM000681.2:g.38496162dup	GRCh38
NC_000019.9:g.38986802dup , CM000681.1:g.38986802dup	GRCh37
NC_000019.8:g.43678642dup	NCBI36
NG_008866.1:g.67463dup , LRG_766:g.67463dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.6549-53dup	ENSP00000471601.2:n.6549-53dup
ENST00000359596.8:c.6549-53dup MANE Select	ENSP00000352608.2:n.6549-53dup
ENST00000355481.8:c.6549-53dup	ENSP00000347667.3:n.6549-53dup
ENST00000359596.7:c.6549-53dup	ENSP00000352608.2:n.6549-53dup
ENST00000360985.7:c.6546-53dup	ENSP00000354254.4:n.6546-53dup
NM_000540.2:c.6549-53dup , LRG_766t1:c.6549-53dup	NP_000531.2:n.6549-53dup
NM_001042723.1:c.6549-53dup	NP_001036188.1:n.6549-53dup
XM_006723317.1:c.6549-53dup	XP_006723380.1:n.6549-53dup
XM_006723319.1:c.6549-53dup	XP_006723382.1:n.6549-53dup
XM_011527204.1:c.6546-53dup	XP_011525506.1:n.6546-53dup
XM_011527205.1:c.6549-53dup	XP_011525507.1:n.6549-53dup
XM_006723317.2:c.6549-53dup	XP_006723380.1:n.6549-53dup
XM_006723319.2:c.6549-53dup	XP_006723382.1:n.6549-53dup
XM_011527205.2:c.6549-53dup	XP_011525507.1:n.6549-53dup
XR_001753735.1:n.6632-53dup
NM_000540.3:c.6549-53dup MANE Select	NP_000531.2:n.6549-53dup
NM_001042723.2:c.6549-53dup	NP_001036188.1:n.6549-53dup