Canonical Allele Identifier: CA10648634
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329038
dbSNP Id: rs886054390

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38486180T>C , CM000681.2:g.38486180T>C GRCh38
NC_000019.9:g.38976820T>C , CM000681.1:g.38976820T>C GRCh37
NC_000019.8:g.43668660T>C NCBI36
NG_008866.1:g.57481T>C , LRG_766:g.57481T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5525T>C ENSP00000471601.2:p.Leu1842Pro
ENST00000359596.8:c.5525T>C MANE Select ENSP00000352608.2:p.Leu1842Pro
ENST00000355481.8:c.5525T>C ENSP00000347667.3:p.Leu1842Pro
ENST00000359596.7:c.5525T>C ENSP00000352608.2:p.Leu1842Pro
ENST00000360985.7:c.5522T>C ENSP00000354254.4:p.Leu1841Pro
NM_000540.2:c.5525T>C , LRG_766t1:c.5525T>C NP_000531.2:p.Leu1842Pro
NM_001042723.1:c.5525T>C NP_001036188.1:p.Leu1842Pro
XM_006723317.1:c.5525T>C XP_006723380.1:p.Leu1842Pro
XM_006723319.1:c.5525T>C XP_006723382.1:p.Leu1842Pro
XM_011527204.1:c.5522T>C XP_011525506.1:p.Leu1841Pro
XM_011527205.1:c.5525T>C XP_011525507.1:p.Leu1842Pro
XM_006723317.2:c.5525T>C XP_006723380.1:p.Leu1842Pro
XM_006723319.2:c.5525T>C XP_006723382.1:p.Leu1842Pro
XM_011527205.2:c.5525T>C XP_011525507.1:p.Leu1842Pro
XR_001753735.1:n.5608T>C
NM_000540.3:c.5525T>C MANE Select NP_000531.2:p.Leu1842Pro
NM_001042723.2:c.5525T>C NP_001036188.1:p.Leu1842Pro