Canonical Allele Identifier: CA920105584
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1568506352
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502778_38502779insACAGGG , CM000681.2:g.38502778_38502779insACAGGG GRCh38
NC_000019.9:g.38993418_38993419insACAGGG , CM000681.1:g.38993418_38993419insACAGGG GRCh37
NC_000019.8:g.43685258_43685259insACAGGG NCBI36
NG_008866.1:g.74079_74080insACAGGG , LRG_766:g.74079_74080insACAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+51_7835+52insACAGGG ENSP00000471601.2:n.7835+51_7835+52insACAGGG
ENST00000359596.8:c.7835+51_7835+52insACAGGG MANE Select ENSP00000352608.2:n.7835+51_7835+52insACAGGG
ENST00000355481.8:c.7835+51_7835+52insACAGGG ENSP00000347667.3:n.7835+51_7835+52insACAGGG
ENST00000359596.7:c.7835+51_7835+52insACAGGG ENSP00000352608.2:n.7835+51_7835+52insACAGGG
ENST00000360985.7:c.7832+51_7832+52insACAGGG ENSP00000354254.4:n.7832+51_7832+52insACAGGG
ENST00000594335.5:c.1287+51_1287+52insACAGGG
NM_000540.2:c.7835+51_7835+52insACAGGG , LRG_766t1:c.7835+51_7835+52insACAGGG NP_000531.2:n.7835+51_7835+52insACAGGG
NM_001042723.1:c.7835+51_7835+52insACAGGG NP_001036188.1:n.7835+51_7835+52insACAGGG
XM_006723317.1:c.7835+51_7835+52insACAGGG XP_006723380.1:n.7835+51_7835+52insACAGGG
XM_006723319.1:c.7835+51_7835+52insACAGGG XP_006723382.1:n.7835+51_7835+52insACAGGG
XM_011527204.1:c.7832+51_7832+52insACAGGG XP_011525506.1:n.7832+51_7832+52insACAGGG
XM_011527205.1:c.7835+51_7835+52insACAGGG XP_011525507.1:n.7835+51_7835+52insACAGGG
XM_006723317.2:c.7835+51_7835+52insACAGGG XP_006723380.1:n.7835+51_7835+52insACAGGG
XM_006723319.2:c.7835+51_7835+52insACAGGG XP_006723382.1:n.7835+51_7835+52insACAGGG
XM_011527205.2:c.7835+51_7835+52insACAGGG XP_011525507.1:n.7835+51_7835+52insACAGGG
XR_001753735.1:n.7918+51_7918+52insACAGGG
NM_000540.3:c.7835+51_7835+52insACAGGG MANE Select NP_000531.2:n.7835+51_7835+52insACAGGG
NM_001042723.2:c.7835+51_7835+52insACAGGG NP_001036188.1:n.7835+51_7835+52insACAGGG
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