Canonical Allele Identifier: CA405684788
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 936613
ClinVar RCV Id: RCV001205447
dbSNP Id: rs373919284
MyVariant Identifiers: chr19:g.39068667C>G (hg19) chr19:g.38578027C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578027C>G , CM000681.2:g.38578027C>G GRCh38
NC_000019.9:g.39068667C>G , CM000681.1:g.39068667C>G GRCh37
NC_000019.8:g.43760507C>G NCBI36
NG_008866.1:g.149328C>G , LRG_766:g.149328C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1218C>G
ENST00000688602.1:c.2615C>G
ENST00000689936.1:c.2587C>G
ENST00000359596.8:c.14282C>G MANE Select ENSP00000352608.2:p.Pro4761Arg
ENST00000355481.8:c.14267C>G ENSP00000347667.3:p.Pro4756Arg
ENST00000359596.7:c.14282C>G ENSP00000352608.2:p.Pro4761Arg
ENST00000360985.7:c.14264C>G ENSP00000354254.4:p.Pro4755Arg
NM_000540.2:c.14282C>G , LRG_766t1:c.14282C>G NP_000531.2:p.Pro4761Arg
NM_001042723.1:c.14267C>G NP_001036188.1:p.Pro4756Arg
XM_006723317.1:c.14264C>G XP_006723380.1:p.Pro4755Arg
XM_006723319.1:c.14249C>G XP_006723382.1:p.Pro4750Arg
XM_011527204.1:c.14279C>G XP_011525506.1:p.Pro4760Arg
XM_011527205.1:c.14195C>G XP_011525507.1:p.Pro4732Arg
XM_006723317.2:c.14264C>G XP_006723380.1:p.Pro4755Arg
XM_006723319.2:c.14249C>G XP_006723382.1:p.Pro4750Arg
XM_011527205.2:c.14195C>G XP_011525507.1:p.Pro4732Arg
NM_000540.3:c.14282C>G MANE Select NP_000531.2:p.Pro4761Arg
NM_001042723.2:c.14267C>G NP_001036188.1:p.Pro4756Arg
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