Canonical Allele Identifier: CA16043557
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374083
ClinVar RCV Id: RCV001057328 RCV002051703 RCV003221969
dbSNP Id: rs1057518885
MyVariant Identifiers: chr19:g.39052002G>A (hg19) chr19:g.38561362G>A (hg38)
ERepo: CA16043557/MONDO:0007783/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38561362G>A , CM000681.2:g.38561362G>A GRCh38
NC_000019.9:g.39052002G>A , CM000681.1:g.39052002G>A GRCh37
NC_000019.8:g.43743842G>A NCBI36
NG_008866.1:g.132663G>A , LRG_766:g.132663G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000688602.1:c.942G>A
ENST00000689936.1:c.924G>A
ENST00000359596.8:c.12532G>A MANE Select ENSP00000352608.2:p.Gly4178Ser
ENST00000355481.8:c.12517G>A ENSP00000347667.3:p.Gly4173Ser
ENST00000359596.7:c.12532G>A ENSP00000352608.2:p.Gly4178Ser
ENST00000360985.7:c.12514G>A ENSP00000354254.4:p.Gly4172Ser
ENST00000594335.5:c.5901G>A
NM_000540.2:c.12532G>A , LRG_766t1:c.12532G>A NP_000531.2:p.Gly4178Ser
NM_001042723.1:c.12517G>A NP_001036188.1:p.Gly4173Ser
XM_006723317.1:c.12514G>A XP_006723380.1:p.Gly4172Ser
XM_006723319.1:c.12499G>A XP_006723382.1:p.Gly4167Ser
XM_011527204.1:c.12529G>A XP_011525506.1:p.Gly4177Ser
XM_011527205.1:c.12532G>A XP_011525507.1:p.Gly4178Ser
XM_006723317.2:c.12514G>A XP_006723380.1:p.Gly4172Ser
XM_006723319.2:c.12499G>A XP_006723382.1:p.Gly4167Ser
XM_011527205.2:c.12532G>A XP_011525507.1:p.Gly4178Ser
NM_000540.3:c.12532G>A MANE Select NP_000531.2:p.Gly4178Ser
NM_001042723.2:c.12517G>A NP_001036188.1:p.Gly4173Ser
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