Canonical Allele Identifier: CA633066234
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1197772095
gnomAD v2: 19-38993401-G-GCAGGGA
gnomAD v3: 19-38502761-G-GCAGGGA
gnomAD v4: 19-38502761-G-GCAGGGA
MyVariant Identifiers: chr19:g.38993401_38993402insCAGGGA (hg19) chr19:g.38502761_38502762insCAGGGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502766_38502767insACAGGG , CM000681.2:g.38502766_38502767insACAGGG GRCh38
NC_000019.9:g.38993406_38993407insACAGGG , CM000681.1:g.38993406_38993407insACAGGG GRCh37
NC_000019.8:g.43685246_43685247insACAGGG NCBI36
NG_008866.1:g.74067_74068insACAGGG , LRG_766:g.74067_74068insACAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+39_7835+40insACAGGG ENSP00000471601.2:n.7835+39_7835+40insACAGGG
ENST00000359596.8:c.7835+39_7835+40insACAGGG MANE Select ENSP00000352608.2:n.7835+39_7835+40insACAGGG
ENST00000355481.8:c.7835+39_7835+40insACAGGG ENSP00000347667.3:n.7835+39_7835+40insACAGGG
ENST00000359596.7:c.7835+39_7835+40insACAGGG ENSP00000352608.2:n.7835+39_7835+40insACAGGG
ENST00000360985.7:c.7832+39_7832+40insACAGGG ENSP00000354254.4:n.7832+39_7832+40insACAGGG
ENST00000594335.5:c.1287+39_1287+40insACAGGG
NM_000540.2:c.7835+39_7835+40insACAGGG , LRG_766t1:c.7835+39_7835+40insACAGGG NP_000531.2:n.7835+39_7835+40insACAGGG
NM_001042723.1:c.7835+39_7835+40insACAGGG NP_001036188.1:n.7835+39_7835+40insACAGGG
XM_006723317.1:c.7835+39_7835+40insACAGGG XP_006723380.1:n.7835+39_7835+40insACAGGG
XM_006723319.1:c.7835+39_7835+40insACAGGG XP_006723382.1:n.7835+39_7835+40insACAGGG
XM_011527204.1:c.7832+39_7832+40insACAGGG XP_011525506.1:n.7832+39_7832+40insACAGGG
XM_011527205.1:c.7835+39_7835+40insACAGGG XP_011525507.1:n.7835+39_7835+40insACAGGG
XM_006723317.2:c.7835+39_7835+40insACAGGG XP_006723380.1:n.7835+39_7835+40insACAGGG
XM_006723319.2:c.7835+39_7835+40insACAGGG XP_006723382.1:n.7835+39_7835+40insACAGGG
XM_011527205.2:c.7835+39_7835+40insACAGGG XP_011525507.1:n.7835+39_7835+40insACAGGG
XR_001753735.1:n.7918+39_7918+40insACAGGG
NM_000540.3:c.7835+39_7835+40insACAGGG MANE Select NP_000531.2:n.7835+39_7835+40insACAGGG
NM_001042723.2:c.7835+39_7835+40insACAGGG NP_001036188.1:n.7835+39_7835+40insACAGGG
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