Canonical Allele Identifier: CA507238353
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1555779048
MyVariant Identifiers: chr19:g.38976268_38976274del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485628_38485634del , CM000681.2:g.38485628_38485634del GRCh38
NC_000019.9:g.38976268_38976274del , CM000681.1:g.38976268_38976274del GRCh37
NC_000019.8:g.43668108_43668114del NCBI36
NG_008866.1:g.56929_56935del , LRG_766:g.56929_56935del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.4973_4979del ENSP00000471601.2:p.Leu1658ProfsTer29
ENST00000359596.8:c.4973_4979del MANE Select ENSP00000352608.2:p.Leu1658ProfsTer29
ENST00000355481.8:c.4973_4979del ENSP00000347667.3:p.Leu1658ProfsTer29
ENST00000359596.7:c.4973_4979del ENSP00000352608.2:p.Leu1658ProfsTer29
ENST00000360985.7:c.4970_4976del ENSP00000354254.4:p.Leu1657ProfsTer29
NM_000540.2:c.4973_4979del , LRG_766t1:c.4973_4979del NP_000531.2:p.Leu1658ProfsTer29
NM_001042723.1:c.4973_4979del NP_001036188.1:p.Leu1658ProfsTer29
XM_006723317.1:c.4973_4979del XP_006723380.1:p.Leu1658ProfsTer29
XM_006723319.1:c.4973_4979del XP_006723382.1:p.Leu1658ProfsTer29
XM_011527204.1:c.4970_4976del XP_011525506.1:p.Leu1657ProfsTer29
XM_011527205.1:c.4973_4979del XP_011525507.1:p.Leu1658ProfsTer29
XM_006723317.2:c.4973_4979del XP_006723380.1:p.Leu1658ProfsTer29
XM_006723319.2:c.4973_4979del XP_006723382.1:p.Leu1658ProfsTer29
XM_011527205.2:c.4973_4979del XP_011525507.1:p.Leu1658ProfsTer29
XR_001753735.1:n.5056_5062del
NM_000540.3:c.4973_4979del MANE Select NP_000531.2:p.Leu1658ProfsTer29
NM_001042723.2:c.4973_4979del NP_001036188.1:p.Leu1658ProfsTer29
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