Canonical Allele Identifier: CA2335031319
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1967326004
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455505_38455508del , CM000681.2:g.38455505_38455508del GRCh38
NC_000019.9:g.38946145_38946148del , CM000681.1:g.38946145_38946148del GRCh37
NC_000019.8:g.43637985_43637988del NCBI36
NG_008866.1:g.26806_26809del , LRG_766:g.26806_26809del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1631_1634del ENSP00000471601.2:p.Asp544GlyfsTer30
ENST00000359596.8:c.1631_1634del MANE Select ENSP00000352608.2:p.Asp544GlyfsTer30
ENST00000355481.8:c.1631_1634del ENSP00000347667.3:p.Asp544GlyfsTer30
ENST00000359596.7:c.1631_1634del ENSP00000352608.2:p.Asp544GlyfsTer30
ENST00000360985.7:c.1631_1634del ENSP00000354254.4:p.Asp544GlyfsTer30
NM_000540.2:c.1631_1634del , LRG_766t1:c.1631_1634del NP_000531.2:p.Asp544GlyfsTer30
NM_001042723.1:c.1631_1634del NP_001036188.1:p.Asp544GlyfsTer30
XM_006723317.1:c.1631_1634del XP_006723380.1:p.Asp544GlyfsTer30
XM_006723319.1:c.1631_1634del XP_006723382.1:p.Asp544GlyfsTer30
XM_011527204.1:c.1628_1631del XP_011525506.1:p.Asp543GlyfsTer30
XM_011527205.1:c.1631_1634del XP_011525507.1:p.Asp544GlyfsTer30
XM_006723317.2:c.1631_1634del XP_006723380.1:p.Asp544GlyfsTer30
XM_006723319.2:c.1631_1634del XP_006723382.1:p.Asp544GlyfsTer30
XM_011527205.2:c.1631_1634del XP_011525507.1:p.Asp544GlyfsTer30
XR_001753735.1:n.1714_1717del
NM_000540.3:c.1631_1634del MANE Select NP_000531.2:p.Asp544GlyfsTer30
NM_001042723.2:c.1631_1634del NP_001036188.1:p.Asp544GlyfsTer30
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