Canonical Allele Identifier: CA024894
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133218
ClinVar RCV Id: RCV000119739 RCV001802877
dbSNP Id: rs193922827
MyVariant Identifiers: chr19:g.38995508G>C (hg19) chr19:g.38504868G>C (hg38)
PubMed: PMID:16732084 PMID:16917943
ERepo: CA024894/MONDO:0018493/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38504868G>C , CM000681.2:g.38504868G>C GRCh38
NC_000019.9:g.38995508G>C , CM000681.1:g.38995508G>C GRCh37
NC_000019.8:g.43687348G>C NCBI36
NG_008866.1:g.76169G>C , LRG_766:g.76169G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.8188G>C ENSP00000471601.2:p.Asp2730His
ENST00000359596.8:c.8188G>C MANE Select ENSP00000352608.2:p.Asp2730His
ENST00000355481.8:c.8188G>C ENSP00000347667.3:p.Asp2730His
ENST00000359596.7:c.8188G>C ENSP00000352608.2:p.Asp2730His
ENST00000360985.7:c.8185G>C ENSP00000354254.4:p.Asp2729His
ENST00000594335.5:c.1640G>C
NM_000540.2:c.8188G>C , LRG_766t1:c.8188G>C NP_000531.2:p.Asp2730His
NM_001042723.1:c.8188G>C NP_001036188.1:p.Asp2730His
XM_006723317.1:c.8188G>C XP_006723380.1:p.Asp2730His
XM_006723319.1:c.8188G>C XP_006723382.1:p.Asp2730His
XM_011527204.1:c.8185G>C XP_011525506.1:p.Asp2729His
XM_011527205.1:c.8188G>C XP_011525507.1:p.Asp2730His
XM_006723317.2:c.8188G>C XP_006723380.1:p.Asp2730His
XM_006723319.2:c.8188G>C XP_006723382.1:p.Asp2730His
XM_011527205.2:c.8188G>C XP_011525507.1:p.Asp2730His
XR_001753735.1:n.8271G>C
NM_000540.3:c.8188G>C MANE Select NP_000531.2:p.Asp2730His
NM_001042723.2:c.8188G>C NP_001036188.1:p.Asp2730His
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