Canonical Allele Identifier: CA405685014
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1974043013
MyVariant Identifiers: chr19:g.39068789T>C (hg19) chr19:g.38578149T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1245T>C
ENST00000688602.1:c.2642T>C
ENST00000689936.1:c.2614T>C
ENST00000359596.8:c.14309T>C MANE Select ENSP00000352608.2:p.Met4770Thr
ENST00000355481.8:c.14294T>C ENSP00000347667.3:p.Met4765Thr
ENST00000359596.7:c.14309T>C ENSP00000352608.2:p.Met4770Thr
ENST00000360985.7:c.14291T>C ENSP00000354254.4:p.Met4764Thr
NM_000540.2:c.14309T>C , LRG_766t1:c.14309T>C NP_000531.2:p.Met4770Thr
NM_001042723.1:c.14294T>C NP_001036188.1:p.Met4765Thr
XM_006723317.1:c.14291T>C XP_006723380.1:p.Met4764Thr
XM_006723319.1:c.14276T>C XP_006723382.1:p.Met4759Thr
XM_011527204.1:c.14306T>C XP_011525506.1:p.Met4769Thr
XM_011527205.1:c.14222T>C XP_011525507.1:p.Met4741Thr
XM_006723317.2:c.14291T>C XP_006723380.1:p.Met4764Thr
XM_006723319.2:c.14276T>C XP_006723382.1:p.Met4759Thr
XM_011527205.2:c.14222T>C XP_011525507.1:p.Met4741Thr
NM_000540.3:c.14309T>C MANE Select NP_000531.2:p.Met4770Thr
NM_001042723.2:c.14294T>C NP_001036188.1:p.Met4765Thr
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