Canonical Allele Identifier: CA405669968
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210314
ClinVar RCV Id: RCV001580427
dbSNP Id: rs193922815
MyVariant Identifiers: chr19:g.38991277G>C (hg19) chr19:g.38500637G>C (hg38)
PubMed: PMID:19191333
ERepo: CA405669968/MONDO:0007783/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38500637G>C , CM000681.2:g.38500637G>C GRCh38
NC_000019.9:g.38991277G>C , CM000681.1:g.38991277G>C GRCh37
NC_000019.8:g.43683117G>C NCBI36
NG_008866.1:g.71938G>C , LRG_766:g.71938G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7355G>C ENSP00000471601.2:p.Arg2452Pro
ENST00000359596.8:c.7355G>C MANE Select ENSP00000352608.2:p.Arg2452Pro
ENST00000355481.8:c.7355G>C ENSP00000347667.3:p.Arg2452Pro
ENST00000359596.7:c.7355G>C ENSP00000352608.2:p.Arg2452Pro
ENST00000360985.7:c.7352G>C ENSP00000354254.4:p.Arg2451Pro
ENST00000594335.5:c.807G>C
NM_000540.2:c.7355G>C , LRG_766t1:c.7355G>C NP_000531.2:p.Arg2452Pro
NM_001042723.1:c.7355G>C NP_001036188.1:p.Arg2452Pro
XM_006723317.1:c.7355G>C XP_006723380.1:p.Arg2452Pro
XM_006723319.1:c.7355G>C XP_006723382.1:p.Arg2452Pro
XM_011527204.1:c.7352G>C XP_011525506.1:p.Arg2451Pro
XM_011527205.1:c.7355G>C XP_011525507.1:p.Arg2452Pro
XM_006723317.2:c.7355G>C XP_006723380.1:p.Arg2452Pro
XM_006723319.2:c.7355G>C XP_006723382.1:p.Arg2452Pro
XM_011527205.2:c.7355G>C XP_011525507.1:p.Arg2452Pro
XR_001753735.1:n.7438G>C
NM_000540.3:c.7355G>C MANE Select NP_000531.2:p.Arg2452Pro
NM_001042723.2:c.7355G>C NP_001036188.1:p.Arg2452Pro
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