Canonical Allele Identifier: CA308122919
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050940
ClinVar RCV Id: RCV001358912 RCV001580397 RCV002504585 RCV003298562 RCV004005259
dbSNP Id: rs901087791
gnomAD v2: 19-38945909-G-A
gnomAD v3: 19-38455269-G-A
gnomAD v4: 19-38455269-G-A
COSMIC: COSM4077755
MyVariant Identifiers: chr19:g.38945909G>A (hg19) chr19:g.38455269G>A (hg38)
ERepo: CA308122919/MONDO:0018493/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455269G>A , CM000681.2:g.38455269G>A GRCh38
NC_000019.9:g.38945909G>A , CM000681.1:g.38945909G>A GRCh37
NC_000019.8:g.43637749G>A NCBI36
NG_008866.1:g.26570G>A , LRG_766:g.26570G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1475G>A ENSP00000471601.2:p.Arg492His
ENST00000359596.8:c.1475G>A MANE Select ENSP00000352608.2:p.Arg492His
ENST00000355481.8:c.1475G>A ENSP00000347667.3:p.Arg492His
ENST00000359596.7:c.1475G>A ENSP00000352608.2:p.Arg492His
ENST00000360985.7:c.1475G>A ENSP00000354254.4:p.Arg492His
NM_000540.2:c.1475G>A , LRG_766t1:c.1475G>A NP_000531.2:p.Arg492His
NM_001042723.1:c.1475G>A NP_001036188.1:p.Arg492His
XM_006723317.1:c.1475G>A XP_006723380.1:p.Arg492His
XM_006723319.1:c.1475G>A XP_006723382.1:p.Arg492His
XM_011527204.1:c.1472G>A XP_011525506.1:p.Arg491His
XM_011527205.1:c.1475G>A XP_011525507.1:p.Arg492His
XM_006723317.2:c.1475G>A XP_006723380.1:p.Arg492His
XM_006723319.2:c.1475G>A XP_006723382.1:p.Arg492His
XM_011527205.2:c.1475G>A XP_011525507.1:p.Arg492His
XR_001753735.1:n.1558G>A
NM_000540.3:c.1475G>A MANE Select NP_000531.2:p.Arg492His
NM_001042723.2:c.1475G>A NP_001036188.1:p.Arg492His
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