Canonical Allele Identifier: CA066527
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs778262078
ExAC: 19:38976204 CTG / C
gnomAD v2: 19-38976204-CTG-C
gnomAD v4: 19-38485564-CTG-C
MyVariant Identifiers: chr19:g.38976205_38976206del (hg19) chr19:g.38485565_38485566del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485566_38485567del , CM000681.2:g.38485566_38485567del GRCh38
NC_000019.9:g.38976206_38976207del , CM000681.1:g.38976206_38976207del GRCh37
NC_000019.8:g.43668046_43668047del NCBI36
NG_008866.1:g.56867_56868del , LRG_766:g.56867_56868del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.4935-24_4935-23del ENSP00000471601.2:n.4935-24_4935-23del
ENST00000359596.8:c.4935-24_4935-23del MANE Select ENSP00000352608.2:n.4935-24_4935-23del
ENST00000355481.8:c.4935-24_4935-23del ENSP00000347667.3:n.4935-24_4935-23del
ENST00000359596.7:c.4935-24_4935-23del ENSP00000352608.2:n.4935-24_4935-23del
ENST00000360985.7:c.4932-24_4932-23del ENSP00000354254.4:n.4932-24_4932-23del
NM_000540.2:c.4935-24_4935-23del , LRG_766t1:c.4935-24_4935-23del NP_000531.2:n.4935-24_4935-23del
NM_001042723.1:c.4935-24_4935-23del NP_001036188.1:n.4935-24_4935-23del
XM_006723317.1:c.4935-24_4935-23del XP_006723380.1:n.4935-24_4935-23del
XM_006723319.1:c.4935-24_4935-23del XP_006723382.1:n.4935-24_4935-23del
XM_011527204.1:c.4932-24_4932-23del XP_011525506.1:n.4932-24_4932-23del
XM_011527205.1:c.4935-24_4935-23del XP_011525507.1:n.4935-24_4935-23del
XM_006723317.2:c.4935-24_4935-23del XP_006723380.1:n.4935-24_4935-23del
XM_006723319.2:c.4935-24_4935-23del XP_006723382.1:n.4935-24_4935-23del
XM_011527205.2:c.4935-24_4935-23del XP_011525507.1:n.4935-24_4935-23del
XR_001753735.1:n.5018-24_5018-23del
NM_000540.3:c.4935-24_4935-23del MANE Select NP_000531.2:n.4935-24_4935-23del
NM_001042723.2:c.4935-24_4935-23del NP_001036188.1:n.4935-24_4935-23del
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