Canonical Allele Identifier: CA082695
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502901_38502902insAGGGTG , CM000681.2:g.38502901_38502902insAGGGTG GRCh38
NC_000019.9:g.38993541_38993542insAGGGTG , CM000681.1:g.38993541_38993542insAGGGTG GRCh37
NC_000019.8:g.43685381_43685382insAGGGTG NCBI36
NG_008866.1:g.74202_74203insAGGGTG , LRG_766:g.74202_74203insAGGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7857_7858insAGGGTG ENSP00000471601.2:p.Leu2619_Gln2620insArgVal
ENST00000359596.8:c.7857_7858insAGGGTG MANE Select ENSP00000352608.2:p.Leu2619_Gln2620insArgVal
ENST00000355481.8:c.7857_7858insAGGGTG ENSP00000347667.3:p.Leu2619_Gln2620insArgVal
ENST00000359596.7:c.7857_7858insAGGGTG ENSP00000352608.2:p.Leu2619_Gln2620insArgVal
ENST00000360985.7:c.7854_7855insAGGGTG ENSP00000354254.4:p.Leu2618_Gln2619insArgVal
ENST00000594335.5:c.1309_1310insAGGGTG
NM_000540.2:c.7857_7858insAGGGTG , LRG_766t1:c.7857_7858insAGGGTG NP_000531.2:p.Leu2619_Gln2620insArgVal
NM_001042723.1:c.7857_7858insAGGGTG NP_001036188.1:p.Leu2619_Gln2620insArgVal
XM_006723317.1:c.7857_7858insAGGGTG XP_006723380.1:p.Leu2619_Gln2620insArgVal
XM_006723319.1:c.7857_7858insAGGGTG XP_006723382.1:p.Leu2619_Gln2620insArgVal
XM_011527204.1:c.7854_7855insAGGGTG XP_011525506.1:p.Leu2618_Gln2619insArgVal
XM_011527205.1:c.7857_7858insAGGGTG XP_011525507.1:p.Leu2619_Gln2620insArgVal
XM_006723317.2:c.7857_7858insAGGGTG XP_006723380.1:p.Leu2619_Gln2620insArgVal
XM_006723319.2:c.7857_7858insAGGGTG XP_006723382.1:p.Leu2619_Gln2620insArgVal
XM_011527205.2:c.7857_7858insAGGGTG XP_011525507.1:p.Leu2619_Gln2620insArgVal
XR_001753735.1:n.7940_7941insAGGGTG
NM_000540.3:c.7857_7858insAGGGTG MANE Select NP_000531.2:p.Leu2619_Gln2620insArgVal
NM_001042723.2:c.7857_7858insAGGGTG NP_001036188.1:p.Leu2619_Gln2620insArgVal
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