Canonical Allele Identifier: CA024172
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133077
ClinVar RCV Id: RCV000119528 RCV001588938
dbSNP Id: rs193922880
MyVariant Identifiers: chr19:g.39071065C>G (hg19) chr19:g.38580425C>G (hg38)
ERepo: CA024172/MONDO:0018493/012
PubMed: PMID:16917943
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580425C>G , CM000681.2:g.38580425C>G GRCh38
NC_000019.9:g.39071065C>G , CM000681.1:g.39071065C>G GRCh37
NC_000019.8:g.43762905C>G NCBI36
NG_008866.1:g.151726C>G , LRG_766:g.151726C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1503C>G
ENST00000688602.1:c.2900C>G
ENST00000689936.1:c.2872C>G
ENST00000359596.8:c.14567C>G MANE Select ENSP00000352608.2:p.Ala4856Gly
ENST00000355481.8:c.14552C>G ENSP00000347667.3:p.Ala4851Gly
ENST00000359596.7:c.14567C>G ENSP00000352608.2:p.Ala4856Gly
ENST00000360985.7:c.14549C>G ENSP00000354254.4:p.Ala4850Gly
NM_000540.2:c.14567C>G , LRG_766t1:c.14567C>G NP_000531.2:p.Ala4856Gly
NM_001042723.1:c.14552C>G NP_001036188.1:p.Ala4851Gly
XM_006723317.1:c.14549C>G XP_006723380.1:p.Ala4850Gly
XM_006723319.1:c.14534C>G XP_006723382.1:p.Ala4845Gly
XM_011527204.1:c.14564C>G XP_011525506.1:p.Ala4855Gly
XM_011527205.1:c.14480C>G XP_011525507.1:p.Ala4827Gly
XM_006723317.2:c.14549C>G XP_006723380.1:p.Ala4850Gly
XM_006723319.2:c.14534C>G XP_006723382.1:p.Ala4845Gly
XM_011527205.2:c.14480C>G XP_011525507.1:p.Ala4827Gly
NM_000540.3:c.14567C>G MANE Select NP_000531.2:p.Ala4856Gly
NM_001042723.2:c.14552C>G NP_001036188.1:p.Ala4851Gly
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