Canonical Allele Identifier: CA405685020
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578149-T-A
MyVariant Identifiers: chr19:g.39068789T>A (hg19) chr19:g.38578149T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578149T>A , CM000681.2:g.38578149T>A GRCh38
NC_000019.9:g.39068789T>A , CM000681.1:g.39068789T>A GRCh37
NC_000019.8:g.43760629T>A NCBI36
NG_008866.1:g.149450T>A , LRG_766:g.149450T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1245T>A
ENST00000688602.1:c.2642T>A
ENST00000689936.1:c.2614T>A
ENST00000359596.8:c.14309T>A MANE Select ENSP00000352608.2:p.Met4770Lys
ENST00000355481.8:c.14294T>A ENSP00000347667.3:p.Met4765Lys
ENST00000359596.7:c.14309T>A ENSP00000352608.2:p.Met4770Lys
ENST00000360985.7:c.14291T>A ENSP00000354254.4:p.Met4764Lys
NM_000540.2:c.14309T>A , LRG_766t1:c.14309T>A NP_000531.2:p.Met4770Lys
NM_001042723.1:c.14294T>A NP_001036188.1:p.Met4765Lys
XM_006723317.1:c.14291T>A XP_006723380.1:p.Met4764Lys
XM_006723319.1:c.14276T>A XP_006723382.1:p.Met4759Lys
XM_011527204.1:c.14306T>A XP_011525506.1:p.Met4769Lys
XM_011527205.1:c.14222T>A XP_011525507.1:p.Met4741Lys
XM_006723317.2:c.14291T>A XP_006723380.1:p.Met4764Lys
XM_006723319.2:c.14276T>A XP_006723382.1:p.Met4759Lys
XM_011527205.2:c.14222T>A XP_011525507.1:p.Met4741Lys
NM_000540.3:c.14309T>A MANE Select NP_000531.2:p.Met4770Lys
NM_001042723.2:c.14294T>A NP_001036188.1:p.Met4765Lys
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