Canonical Allele Identifier: CA633065762
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1568447870

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455429_38455430insG , CM000681.2:g.38455429_38455430insG GRCh38
NC_000019.9:g.38946069_38946070insG , CM000681.1:g.38946069_38946070insG GRCh37
NC_000019.8:g.43637909_43637910insG NCBI36
NG_008866.1:g.26730_26731insG , LRG_766:g.26730_26731insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1577-22_1577-21insG ENSP00000471601.2:n.1577-22_1577-21insG
ENST00000359596.8:c.1577-22_1577-21insG MANE Select ENSP00000352608.2:n.1577-22_1577-21insG
ENST00000355481.8:c.1577-22_1577-21insG ENSP00000347667.3:n.1577-22_1577-21insG
ENST00000359596.7:c.1577-22_1577-21insG ENSP00000352608.2:n.1577-22_1577-21insG
ENST00000360985.7:c.1577-22_1577-21insG ENSP00000354254.4:n.1577-22_1577-21insG
NM_000540.2:c.1577-22_1577-21insG , LRG_766t1:c.1577-22_1577-21insG NP_000531.2:n.1577-22_1577-21insG
NM_001042723.1:c.1577-22_1577-21insG NP_001036188.1:n.1577-22_1577-21insG
XM_006723317.1:c.1577-22_1577-21insG XP_006723380.1:n.1577-22_1577-21insG
XM_006723319.1:c.1577-22_1577-21insG XP_006723382.1:n.1577-22_1577-21insG
XM_011527204.1:c.1574-22_1574-21insG XP_011525506.1:n.1574-22_1574-21insG
XM_011527205.1:c.1577-22_1577-21insG XP_011525507.1:n.1577-22_1577-21insG
XM_006723317.2:c.1577-22_1577-21insG XP_006723380.1:n.1577-22_1577-21insG
XM_006723319.2:c.1577-22_1577-21insG XP_006723382.1:n.1577-22_1577-21insG
XM_011527205.2:c.1577-22_1577-21insG XP_011525507.1:n.1577-22_1577-21insG
XR_001753735.1:n.1660-22_1660-21insG
NM_000540.3:c.1577-22_1577-21insG MANE Select NP_000531.2:n.1577-22_1577-21insG
NM_001042723.2:c.1577-22_1577-21insG NP_001036188.1:n.1577-22_1577-21insG