Canonical Allele Identifier: CA2499306184
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.[38578184G>A;38586150C>G] , CM000681.2:g.[38578184G>A;38586150C>G] GRCh38
NC_000019.9:g.[39068824G>A;39076790C>G] , CM000681.1:g.[39068824G>A;39076790C>G] GRCh37
NC_000019.8:g.[43760664G>A;43768630C>G] NCBI36
NG_008866.1:g.[149485G>A;157451C>G] , LRG_766:g.[149485G>A;157451C>G]

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.[1280G>A;1864C>G]
ENST00000688602.1:c.[2677G>A;3261C>G]
ENST00000689936.1:c.[2649G>A;3233C>G]
ENST00000359596.8:c.[14344G>A;14928C>G] MANE Select ENSP00000352608.2:p.[Gly4782Arg;Phe4976Leu]
ENST00000355481.8:c.[14329G>A;14913C>G] ENSP00000347667.3:p.[Gly4777Arg;Phe4971Leu]
ENST00000359596.7:c.[14344G>A;14928C>G] ENSP00000352608.2:p.[Gly4782Arg;Phe4976Leu]
ENST00000360985.7:c.[14326G>A;14910C>G] ENSP00000354254.4:p.[Gly4776Arg;Phe4970Leu]
NM_000540.2:c.[14344G>A;14928C>G] , LRG_766t1:c.[14344G>A;14928C>G] NP_000531.2:p.[Gly4782Arg;Phe4976Leu]
NM_001042723.1:c.[14329G>A;14913C>G] NP_001036188.1:p.[Gly4777Arg;Phe4971Leu]
XM_006723317.1:c.[14326G>A;14910C>G] XP_006723380.1:p.[Gly4776Arg;Phe4970Leu]
XM_006723319.1:c.[14311G>A;14895C>G] XP_006723382.1:p.[Gly4771Arg;Phe4965Leu]
XM_011527204.1:c.[14341G>A;14925C>G] XP_011525506.1:p.[Gly4781Arg;Phe4975Leu]
XM_011527205.1:c.[14257G>A;14841C>G] XP_011525507.1:p.[Gly4753Arg;Phe4947Leu]
XM_006723317.2:c.[14326G>A;14910C>G] XP_006723380.1:p.[Gly4776Arg;Phe4970Leu]
XM_006723319.2:c.[14311G>A;14895C>G] XP_006723382.1:p.[Gly4771Arg;Phe4965Leu]
XM_011527205.2:c.[14257G>A;14841C>G] XP_011525507.1:p.[Gly4753Arg;Phe4947Leu]
NM_000540.3:c.[14344G>A;14928C>G] MANE Select NP_000531.2:p.[Gly4782Arg;Phe4976Leu]
NM_001042723.2:c.[14329G>A;14913C>G] NP_001036188.1:p.[Gly4777Arg;Phe4971Leu]
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