Canonical Allele Identifier: CA082535
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 699111
ClinVar RCV Id: RCV000866807
dbSNP Id: rs144196095
ExAC: 19:38993215 C / T
gnomAD v2: 19-38993215-C-T
gnomAD v3: 19-38502575-C-T
gnomAD v4: 19-38502575-C-T
MyVariant Identifiers: chr19:g.38993215C>T (hg19) chr19:g.38502575C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502575C>T , CM000681.2:g.38502575C>T GRCh38
NC_000019.9:g.38993215C>T , CM000681.1:g.38993215C>T GRCh37
NC_000019.8:g.43685055C>T NCBI36
NG_008866.1:g.73876C>T , LRG_766:g.73876C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7683C>T ENSP00000471601.2:p.Leu2561=
ENST00000359596.8:c.7683C>T MANE Select ENSP00000352608.2:p.Leu2561=
ENST00000355481.8:c.7683C>T ENSP00000347667.3:p.Leu2561=
ENST00000359596.7:c.7683C>T ENSP00000352608.2:p.Leu2561=
ENST00000360985.7:c.7680C>T ENSP00000354254.4:p.Leu2560=
ENST00000594335.5:c.1135C>T
NM_000540.2:c.7683C>T , LRG_766t1:c.7683C>T NP_000531.2:p.Leu2561=
NM_001042723.1:c.7683C>T NP_001036188.1:p.Leu2561=
XM_006723317.1:c.7683C>T XP_006723380.1:p.Leu2561=
XM_006723319.1:c.7683C>T XP_006723382.1:p.Leu2561=
XM_011527204.1:c.7680C>T XP_011525506.1:p.Leu2560=
XM_011527205.1:c.7683C>T XP_011525507.1:p.Leu2561=
XM_006723317.2:c.7683C>T XP_006723380.1:p.Leu2561=
XM_006723319.2:c.7683C>T XP_006723382.1:p.Leu2561=
XM_011527205.2:c.7683C>T XP_011525507.1:p.Leu2561=
XR_001753735.1:n.7766C>T
NM_000540.3:c.7683C>T MANE Select NP_000531.2:p.Leu2561=
NM_001042723.2:c.7683C>T NP_001036188.1:p.Leu2561=
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