Canonical Allele Identifier: CA082311
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.38990290A>C (hg19) chr19:g.38499650A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499650A>C , CM000681.2:g.38499650A>C GRCh38
NC_000019.9:g.38990290A>C , CM000681.1:g.38990290A>C GRCh37
NC_000019.8:g.43682130A>C NCBI36
NG_008866.1:g.70951A>C , LRG_766:g.70951A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7043A>C ENSP00000471601.2:p.Glu2348Ala
ENST00000359596.8:c.7043A>C MANE Select ENSP00000352608.2:p.Glu2348Ala
ENST00000355481.8:c.7043A>C ENSP00000347667.3:p.Glu2348Ala
ENST00000359596.7:c.7043A>C ENSP00000352608.2:p.Glu2348Ala
ENST00000360985.7:c.7040A>C ENSP00000354254.4:p.Glu2347Ala
ENST00000594335.5:c.495A>C
NM_000540.2:c.7043A>C , LRG_766t1:c.7043A>C NP_000531.2:p.Glu2348Ala
NM_001042723.1:c.7043A>C NP_001036188.1:p.Glu2348Ala
XM_006723317.1:c.7043A>C XP_006723380.1:p.Glu2348Ala
XM_006723319.1:c.7043A>C XP_006723382.1:p.Glu2348Ala
XM_011527204.1:c.7040A>C XP_011525506.1:p.Glu2347Ala
XM_011527205.1:c.7043A>C XP_011525507.1:p.Glu2348Ala
XM_006723317.2:c.7043A>C XP_006723380.1:p.Glu2348Ala
XM_006723319.2:c.7043A>C XP_006723382.1:p.Glu2348Ala
XM_011527205.2:c.7043A>C XP_011525507.1:p.Glu2348Ala
XR_001753735.1:n.7126A>C
NM_000540.3:c.7043A>C MANE Select NP_000531.2:p.Glu2348Ala
NM_001042723.2:c.7043A>C NP_001036188.1:p.Glu2348Ala
Search 100 bp 5'
Search 100 bp 3'