Canonical Allele Identifier: CA405690291
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 582126
ClinVar RCV Id: RCV000706118 RCV000721396 RCV003352998
dbSNP Id: rs118192148
MyVariant Identifiers: chr19:g.39075626G>A (hg19) chr19:g.38584986G>A (hg38)
ERepo: CA405690291/MONDO:0100150/150
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38584986G>A , CM000681.2:g.38584986G>A GRCh38
NC_000019.9:g.39075626G>A , CM000681.1:g.39075626G>A GRCh37
NC_000019.8:g.43767466G>A NCBI36
NG_008866.1:g.156287G>A , LRG_766:g.156287G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1626G>A
ENST00000688602.1:c.3023G>A
ENST00000689936.1:c.2995G>A
ENST00000692547.1:n.83G>A
ENST00000359596.8:c.14690G>A MANE Select ENSP00000352608.2:p.Gly4897Asp
ENST00000355481.8:c.14675G>A ENSP00000347667.3:p.Gly4892Asp
ENST00000359596.7:c.14690G>A ENSP00000352608.2:p.Gly4897Asp
ENST00000360985.7:c.14672G>A ENSP00000354254.4:p.Gly4891Asp
NM_000540.2:c.14690G>A , LRG_766t1:c.14690G>A NP_000531.2:p.Gly4897Asp
NM_001042723.1:c.14675G>A NP_001036188.1:p.Gly4892Asp
XM_006723317.1:c.14672G>A XP_006723380.1:p.Gly4891Asp
XM_006723319.1:c.14657G>A XP_006723382.1:p.Gly4886Asp
XM_011527204.1:c.14687G>A XP_011525506.1:p.Gly4896Asp
XM_011527205.1:c.14603G>A XP_011525507.1:p.Gly4868Asp
XM_006723317.2:c.14672G>A XP_006723380.1:p.Gly4891Asp
XM_006723319.2:c.14657G>A XP_006723382.1:p.Gly4886Asp
XM_011527205.2:c.14603G>A XP_011525507.1:p.Gly4868Asp
NM_000540.3:c.14690G>A MANE Select NP_000531.2:p.Gly4897Asp
NM_001042723.2:c.14675G>A NP_001036188.1:p.Gly4892Asp
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