Canonical Allele Identifier: CA507243734
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069401
ClinVar RCV Id: RCV004007945
dbSNP Id: rs144196095
gnomAD v2: 19-38993215-C-G
gnomAD v3: 19-38502575-C-G
gnomAD v4: 19-38502575-C-G
MyVariant Identifiers: chr19:g.38993215C>G (hg19) chr19:g.38502575C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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