Canonical Allele Identifier: CA405685316
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075094
ClinVar RCV Id: RCV004015620
MyVariant Identifiers: chr19:g.39068825G>A (hg19) chr19:g.38578185G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578185G>A , CM000681.2:g.38578185G>A GRCh38
NC_000019.9:g.39068825G>A , CM000681.1:g.39068825G>A GRCh37
NC_000019.8:g.43760665G>A NCBI36
NG_008866.1:g.149486G>A , LRG_766:g.149486G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1281G>A
ENST00000688602.1:c.2678G>A
ENST00000689936.1:c.2650G>A
ENST00000359596.8:c.14345G>A MANE Select ENSP00000352608.2:p.Gly4782Glu
ENST00000355481.8:c.14330G>A ENSP00000347667.3:p.Gly4777Glu
ENST00000359596.7:c.14345G>A ENSP00000352608.2:p.Gly4782Glu
ENST00000360985.7:c.14327G>A ENSP00000354254.4:p.Gly4776Glu
NM_000540.2:c.14345G>A , LRG_766t1:c.14345G>A NP_000531.2:p.Gly4782Glu
NM_001042723.1:c.14330G>A NP_001036188.1:p.Gly4777Glu
XM_006723317.1:c.14327G>A XP_006723380.1:p.Gly4776Glu
XM_006723319.1:c.14312G>A XP_006723382.1:p.Gly4771Glu
XM_011527204.1:c.14342G>A XP_011525506.1:p.Gly4781Glu
XM_011527205.1:c.14258G>A XP_011525507.1:p.Gly4753Glu
XM_006723317.2:c.14327G>A XP_006723380.1:p.Gly4776Glu
XM_006723319.2:c.14312G>A XP_006723382.1:p.Gly4771Glu
XM_011527205.2:c.14258G>A XP_011525507.1:p.Gly4753Glu
NM_000540.3:c.14345G>A MANE Select NP_000531.2:p.Gly4782Glu
NM_001042723.2:c.14330G>A NP_001036188.1:p.Gly4777Glu
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