Canonical Allele Identifier: CA882051936
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1279218083
gnomAD v3: 19-38500190-CT-C
gnomAD v4: 19-38500190-CT-C
MyVariant Identifiers: chr19:g.38990831del (hg19) chr19:g.38500191del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38500191del , CM000681.2:g.38500191del GRCh38
NC_000019.9:g.38990831del , CM000681.1:g.38990831del GRCh37
NC_000019.8:g.43682671del NCBI36
NG_008866.1:g.71492del , LRG_766:g.71492del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7323+175del ENSP00000471601.2:n.7323+175del
ENST00000359596.8:c.7323+175del MANE Select ENSP00000352608.2:n.7323+175del
ENST00000355481.8:c.7323+175del ENSP00000347667.3:n.7323+175del
ENST00000359596.7:c.7323+175del ENSP00000352608.2:n.7323+175del
ENST00000360985.7:c.7320+175del ENSP00000354254.4:n.7320+175del
ENST00000594335.5:c.775+175del
NM_000540.2:c.7323+175del , LRG_766t1:c.7323+175del NP_000531.2:n.7323+175del
NM_001042723.1:c.7323+175del NP_001036188.1:n.7323+175del
XM_006723317.1:c.7323+175del XP_006723380.1:n.7323+175del
XM_006723319.1:c.7323+175del XP_006723382.1:n.7323+175del
XM_011527204.1:c.7320+175del XP_011525506.1:n.7320+175del
XM_011527205.1:c.7323+175del XP_011525507.1:n.7323+175del
XM_006723317.2:c.7323+175del XP_006723380.1:n.7323+175del
XM_006723319.2:c.7323+175del XP_006723382.1:n.7323+175del
XM_011527205.2:c.7323+175del XP_011525507.1:n.7323+175del
XR_001753735.1:n.7406+175del
NM_000540.3:c.7323+175del MANE Select NP_000531.2:n.7323+175del
NM_001042723.2:c.7323+175del NP_001036188.1:n.7323+175del
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