Canonical Allele Identifier: CA16608999
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 390628
ClinVar RCV Id: RCV003591735
dbSNP Id: rs1057523844
MyVariant Identifiers: chr19:g.38997187G>T (hg19) chr19:g.38506547G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38506547G>T , CM000681.2:g.38506547G>T GRCh38
NC_000019.9:g.38997187G>T , CM000681.1:g.38997187G>T GRCh37
NC_000019.8:g.43689027G>T NCBI36
NG_008866.1:g.77848G>T , LRG_766:g.77848G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.8692+1G>T ENSP00000471601.2:n.8692+1G>T
ENST00000359596.8:c.8692+1G>T MANE Select ENSP00000352608.2:n.8692+1G>T
ENST00000355481.8:c.8692+1G>T ENSP00000347667.3:n.8692+1G>T
ENST00000359596.7:c.8692+1G>T ENSP00000352608.2:n.8692+1G>T
ENST00000360985.7:c.8689+1G>T ENSP00000354254.4:n.8689+1G>T
ENST00000594335.5:c.2144+1G>T
NM_000540.2:c.8692+1G>T , LRG_766t1:c.8692+1G>T NP_000531.2:n.8692+1G>T
NM_001042723.1:c.8692+1G>T NP_001036188.1:n.8692+1G>T
XM_006723317.1:c.8692+1G>T XP_006723380.1:n.8692+1G>T
XM_006723319.1:c.8692+1G>T XP_006723382.1:n.8692+1G>T
XM_011527204.1:c.8689+1G>T XP_011525506.1:n.8689+1G>T
XM_011527205.1:c.8692+1G>T XP_011525507.1:n.8692+1G>T
XM_006723317.2:c.8692+1G>T XP_006723380.1:n.8692+1G>T
XM_006723319.2:c.8692+1G>T XP_006723382.1:n.8692+1G>T
XM_011527205.2:c.8692+1G>T XP_011525507.1:n.8692+1G>T
XR_001753735.1:n.8775+1G>T
NM_000540.3:c.8692+1G>T MANE Select NP_000531.2:n.8692+1G>T
NM_001042723.2:c.8692+1G>T NP_001036188.1:n.8692+1G>T
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