Canonical Allele Identifier: CA2335027078
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1972944723
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38446436_38446437insGA , CM000681.2:g.38446436_38446437insGA GRCh38
NC_000019.9:g.38937076_38937077insGA , CM000681.1:g.38937076_38937077insGA GRCh37
NC_000019.8:g.43628916_43628917insGA NCBI36
NG_008866.1:g.17737_17738insGA , LRG_766:g.17737_17738insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.632-36_632-35insGA ENSP00000471601.2:n.632-36_632-35insGA
ENST00000359596.8:c.632-36_632-35insGA MANE Select ENSP00000352608.2:n.632-36_632-35insGA
ENST00000355481.8:c.632-36_632-35insGA ENSP00000347667.3:n.632-36_632-35insGA
ENST00000359596.7:c.632-36_632-35insGA ENSP00000352608.2:n.632-36_632-35insGA
ENST00000360985.7:c.632-36_632-35insGA ENSP00000354254.4:n.632-36_632-35insGA
NM_000540.2:c.632-36_632-35insGA , LRG_766t1:c.632-36_632-35insGA NP_000531.2:n.632-36_632-35insGA
NM_001042723.1:c.632-36_632-35insGA NP_001036188.1:n.632-36_632-35insGA
XM_006723317.1:c.632-36_632-35insGA XP_006723380.1:n.632-36_632-35insGA
XM_006723319.1:c.632-36_632-35insGA XP_006723382.1:n.632-36_632-35insGA
XM_011527204.1:c.632-36_632-35insGA XP_011525506.1:n.632-36_632-35insGA
XM_011527205.1:c.632-36_632-35insGA XP_011525507.1:n.632-36_632-35insGA
XM_006723317.2:c.632-36_632-35insGA XP_006723380.1:n.632-36_632-35insGA
XM_006723319.2:c.632-36_632-35insGA XP_006723382.1:n.632-36_632-35insGA
XM_011527205.2:c.632-36_632-35insGA XP_011525507.1:n.632-36_632-35insGA
XR_001753735.1:n.715-36_715-35insGA
NM_000540.3:c.632-36_632-35insGA MANE Select NP_000531.2:n.632-36_632-35insGA
NM_001042723.2:c.632-36_632-35insGA NP_001036188.1:n.632-36_632-35insGA
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