Canonical Allele Identifier: CA995715519
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v3: 19-38499697-T-TAGATC
gnomAD v4: 19-38499697-T-TAGATC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499697_38499698insAGATC , CM000681.2:g.38499697_38499698insAGATC GRCh38
NC_000019.9:g.38990337_38990338insAGATC , CM000681.1:g.38990337_38990338insAGATC GRCh37
NC_000019.8:g.43682177_43682178insAGATC NCBI36
NG_008866.1:g.70998_70999insAGATC , LRG_766:g.70998_70999insAGATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7090_7091insAGATC ENSP00000471601.2:p.Phe2364Ter
ENST00000359596.8:c.7090_7091insAGATC MANE Select ENSP00000352608.2:p.Phe2364Ter
ENST00000355481.8:c.7090_7091insAGATC ENSP00000347667.3:p.Phe2364Ter
ENST00000359596.7:c.7090_7091insAGATC ENSP00000352608.2:p.Phe2364Ter
ENST00000360985.7:c.7087_7088insAGATC ENSP00000354254.4:p.Phe2363Ter
ENST00000594335.5:c.542_543insAGATC
NM_000540.2:c.7090_7091insAGATC , LRG_766t1:c.7090_7091insAGATC NP_000531.2:p.Phe2364Ter
NM_001042723.1:c.7090_7091insAGATC NP_001036188.1:p.Phe2364Ter
XM_006723317.1:c.7090_7091insAGATC XP_006723380.1:p.Phe2364Ter
XM_006723319.1:c.7090_7091insAGATC XP_006723382.1:p.Phe2364Ter
XM_011527204.1:c.7087_7088insAGATC XP_011525506.1:p.Phe2363Ter
XM_011527205.1:c.7090_7091insAGATC XP_011525507.1:p.Phe2364Ter
XM_006723317.2:c.7090_7091insAGATC XP_006723380.1:p.Phe2364Ter
XM_006723319.2:c.7090_7091insAGATC XP_006723382.1:p.Phe2364Ter
XM_011527205.2:c.7090_7091insAGATC XP_011525507.1:p.Phe2364Ter
XR_001753735.1:n.7173_7174insAGATC
NM_000540.3:c.7090_7091insAGATC MANE Select NP_000531.2:p.Phe2364Ter
NM_001042723.2:c.7090_7091insAGATC NP_001036188.1:p.Phe2364Ter
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