Canonical Allele Identifier: CA2584910282
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38573088-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573088A>G , CM000681.2:g.38573088A>G GRCh38
NC_000019.9:g.39063728A>G , CM000681.1:g.39063728A>G GRCh37
NC_000019.8:g.43755568A>G NCBI36
NG_008866.1:g.144389A>G , LRG_766:g.144389A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.935-89A>G
ENST00000688602.1:c.2332-89A>G
ENST00000689936.1:c.2304-89A>G
ENST00000359596.8:c.13999-89A>G MANE Select ENSP00000352608.2:n.13999-89A>G
ENST00000355481.8:c.13984-89A>G ENSP00000347667.3:n.13984-89A>G
ENST00000359596.7:c.13999-89A>G ENSP00000352608.2:n.13999-89A>G
ENST00000360985.7:c.13981-89A>G ENSP00000354254.4:n.13981-89A>G
NM_000540.2:c.13999-89A>G , LRG_766t1:c.13999-89A>G NP_000531.2:n.13999-89A>G
NM_001042723.1:c.13984-89A>G NP_001036188.1:n.13984-89A>G
XM_006723317.1:c.13981-89A>G XP_006723380.1:n.13981-89A>G
XM_006723319.1:c.13966-89A>G XP_006723382.1:n.13966-89A>G
XM_011527204.1:c.13996-89A>G XP_011525506.1:n.13996-89A>G
XM_011527205.1:c.13912-89A>G XP_011525507.1:n.13912-89A>G
XM_006723317.2:c.13981-89A>G XP_006723380.1:n.13981-89A>G
XM_006723319.2:c.13966-89A>G XP_006723382.1:n.13966-89A>G
XM_011527205.2:c.13912-89A>G XP_011525507.1:n.13912-89A>G
NM_000540.3:c.13999-89A>G MANE Select NP_000531.2:n.13999-89A>G
NM_001042723.2:c.13984-89A>G NP_001036188.1:n.13984-89A>G
Search 100 bp 5'
Search 100 bp 3'