Canonical Allele Identifier: CA405684225
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590447
ClinVar RCV Id: RCV000721356 RCV001450009
dbSNP Id: rs1568601643
MyVariant Identifiers: chr19:g.39068571A>C (hg19) chr19:g.38577931A>C (hg38)
ERepo: CA405684225/MONDO:0018493/012
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577931A>C , CM000681.2:g.38577931A>C GRCh38
NC_000019.9:g.39068571A>C , CM000681.1:g.39068571A>C GRCh37
NC_000019.8:g.43760411A>C NCBI36
NG_008866.1:g.149232A>C , LRG_766:g.149232A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1122A>C
ENST00000688602.1:c.2519A>C
ENST00000689936.1:c.2491A>C
ENST00000359596.8:c.14186A>C MANE Select ENSP00000352608.2:p.His4729Pro
ENST00000355481.8:c.14171A>C ENSP00000347667.3:p.His4724Pro
ENST00000359596.7:c.14186A>C ENSP00000352608.2:p.His4729Pro
ENST00000360985.7:c.14168A>C ENSP00000354254.4:p.His4723Pro
NM_000540.2:c.14186A>C , LRG_766t1:c.14186A>C NP_000531.2:p.His4729Pro
NM_001042723.1:c.14171A>C NP_001036188.1:p.His4724Pro
XM_006723317.1:c.14168A>C XP_006723380.1:p.His4723Pro
XM_006723319.1:c.14153A>C XP_006723382.1:p.His4718Pro
XM_011527204.1:c.14183A>C XP_011525506.1:p.His4728Pro
XM_011527205.1:c.14099A>C XP_011525507.1:p.His4700Pro
XM_006723317.2:c.14168A>C XP_006723380.1:p.His4723Pro
XM_006723319.2:c.14153A>C XP_006723382.1:p.His4718Pro
XM_011527205.2:c.14099A>C XP_011525507.1:p.His4700Pro
NM_000540.3:c.14186A>C MANE Select NP_000531.2:p.His4729Pro
NM_001042723.2:c.14171A>C NP_001036188.1:p.His4724Pro
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