Canonical Allele Identifier: CA2335088916
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1973796027
gnomAD v4: 19-38573089-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573089G>C , CM000681.2:g.38573089G>C GRCh38
NC_000019.9:g.39063729G>C , CM000681.1:g.39063729G>C GRCh37
NC_000019.8:g.43755569G>C NCBI36
NG_008866.1:g.144390G>C , LRG_766:g.144390G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.935-88G>C
ENST00000688602.1:c.2332-88G>C
ENST00000689936.1:c.2304-88G>C
ENST00000359596.8:c.13999-88G>C MANE Select ENSP00000352608.2:n.13999-88G>C
ENST00000355481.8:c.13984-88G>C ENSP00000347667.3:n.13984-88G>C
ENST00000359596.7:c.13999-88G>C ENSP00000352608.2:n.13999-88G>C
ENST00000360985.7:c.13981-88G>C ENSP00000354254.4:n.13981-88G>C
NM_000540.2:c.13999-88G>C , LRG_766t1:c.13999-88G>C NP_000531.2:n.13999-88G>C
NM_001042723.1:c.13984-88G>C NP_001036188.1:n.13984-88G>C
XM_006723317.1:c.13981-88G>C XP_006723380.1:n.13981-88G>C
XM_006723319.1:c.13966-88G>C XP_006723382.1:n.13966-88G>C
XM_011527204.1:c.13996-88G>C XP_011525506.1:n.13996-88G>C
XM_011527205.1:c.13912-88G>C XP_011525507.1:n.13912-88G>C
XM_006723317.2:c.13981-88G>C XP_006723380.1:n.13981-88G>C
XM_006723319.2:c.13966-88G>C XP_006723382.1:n.13966-88G>C
XM_011527205.2:c.13912-88G>C XP_011525507.1:n.13912-88G>C
NM_000540.3:c.13999-88G>C MANE Select NP_000531.2:n.13999-88G>C
NM_001042723.2:c.13984-88G>C NP_001036188.1:n.13984-88G>C
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