Canonical Allele Identifier: CA405684271
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071374
ClinVar RCV Id: RCV004014876
dbSNP Id: rs1387825535
gnomAD v2: 19-39068579-A-C
gnomAD v3: 19-38577939-A-C
gnomAD v4: 19-38577939-A-C
MyVariant Identifiers: chr19:g.39068579A>C (hg19) chr19:g.38577939A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577939A>C , CM000681.2:g.38577939A>C GRCh38
NC_000019.9:g.39068579A>C , CM000681.1:g.39068579A>C GRCh37
NC_000019.8:g.43760419A>C NCBI36
NG_008866.1:g.149240A>C , LRG_766:g.149240A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1130A>C
ENST00000688602.1:c.2527A>C
ENST00000689936.1:c.2499A>C
ENST00000359596.8:c.14194A>C MANE Select ENSP00000352608.2:p.Ile4732Leu
ENST00000355481.8:c.14179A>C ENSP00000347667.3:p.Ile4727Leu
ENST00000359596.7:c.14194A>C ENSP00000352608.2:p.Ile4732Leu
ENST00000360985.7:c.14176A>C ENSP00000354254.4:p.Ile4726Leu
NM_000540.2:c.14194A>C , LRG_766t1:c.14194A>C NP_000531.2:p.Ile4732Leu
NM_001042723.1:c.14179A>C NP_001036188.1:p.Ile4727Leu
XM_006723317.1:c.14176A>C XP_006723380.1:p.Ile4726Leu
XM_006723319.1:c.14161A>C XP_006723382.1:p.Ile4721Leu
XM_011527204.1:c.14191A>C XP_011525506.1:p.Ile4731Leu
XM_011527205.1:c.14107A>C XP_011525507.1:p.Ile4703Leu
XM_006723317.2:c.14176A>C XP_006723380.1:p.Ile4726Leu
XM_006723319.2:c.14161A>C XP_006723382.1:p.Ile4721Leu
XM_011527205.2:c.14107A>C XP_011525507.1:p.Ile4703Leu
NM_000540.3:c.14194A>C MANE Select NP_000531.2:p.Ile4732Leu
NM_001042723.2:c.14179A>C NP_001036188.1:p.Ile4727Leu
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