Canonical Allele Identifier: CA405680453
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1381186128
MyVariant Identifiers: chr19:g.38937392G>C (hg19) chr19:g.38446752G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38446752G>C , CM000681.2:g.38446752G>C GRCh38
NC_000019.9:g.38937392G>C , CM000681.1:g.38937392G>C GRCh37
NC_000019.8:g.43629232G>C NCBI36
NG_008866.1:g.18053G>C , LRG_766:g.18053G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.784G>C ENSP00000471601.2:p.Glu262Gln
ENST00000359596.8:c.784G>C MANE Select ENSP00000352608.2:p.Glu262Gln
ENST00000355481.8:c.784G>C ENSP00000347667.3:p.Glu262Gln
ENST00000359596.7:c.784G>C ENSP00000352608.2:p.Glu262Gln
ENST00000360985.7:c.784G>C ENSP00000354254.4:p.Glu262Gln
NM_000540.2:c.784G>C , LRG_766t1:c.784G>C NP_000531.2:p.Glu262Gln
NM_001042723.1:c.784G>C NP_001036188.1:p.Glu262Gln
XM_006723317.1:c.784G>C XP_006723380.1:p.Glu262Gln
XM_006723319.1:c.784G>C XP_006723382.1:p.Glu262Gln
XM_011527204.1:c.784G>C XP_011525506.1:p.Glu262Gln
XM_011527205.1:c.784G>C XP_011525507.1:p.Glu262Gln
XM_006723317.2:c.784G>C XP_006723380.1:p.Glu262Gln
XM_006723319.2:c.784G>C XP_006723382.1:p.Glu262Gln
XM_011527205.2:c.784G>C XP_011525507.1:p.Glu262Gln
XR_001753735.1:n.867G>C
NM_000540.3:c.784G>C MANE Select NP_000531.2:p.Glu262Gln
NM_001042723.2:c.784G>C NP_001036188.1:p.Glu262Gln
Search 100 bp 5'
Search 100 bp 3'