Canonical Allele Identifier: CA507245916
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068686C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578046C>A , CM000681.2:g.38578046C>A GRCh38
NC_000019.9:g.39068686C>A , CM000681.1:g.39068686C>A GRCh37
NC_000019.8:g.43760526C>A NCBI36
NG_008866.1:g.149347C>A , LRG_766:g.149347C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1237C>A
ENST00000688602.1:c.2634C>A
ENST00000689936.1:c.2606C>A
ENST00000359596.8:c.14301C>A MANE Select ENSP00000352608.2:p.Thr4767=
ENST00000355481.8:c.14286C>A ENSP00000347667.3:p.Thr4762=
ENST00000359596.7:c.14301C>A ENSP00000352608.2:p.Thr4767=
ENST00000360985.7:c.14283C>A ENSP00000354254.4:p.Thr4761=
NM_000540.2:c.14301C>A , LRG_766t1:c.14301C>A NP_000531.2:p.Thr4767=
NM_001042723.1:c.14286C>A NP_001036188.1:p.Thr4762=
XM_006723317.1:c.14283C>A XP_006723380.1:p.Thr4761=
XM_006723319.1:c.14268C>A XP_006723382.1:p.Thr4756=
XM_011527204.1:c.14298C>A XP_011525506.1:p.Thr4766=
XM_011527205.1:c.14214C>A XP_011525507.1:p.Thr4738=
XM_006723317.2:c.14283C>A XP_006723380.1:p.Thr4761=
XM_006723319.2:c.14268C>A XP_006723382.1:p.Thr4756=
XM_011527205.2:c.14214C>A XP_011525507.1:p.Thr4738=
NM_000540.3:c.14301C>A MANE Select NP_000531.2:p.Thr4767=
NM_001042723.2:c.14286C>A NP_001036188.1:p.Thr4762=
Search 100 bp 5'
Search 100 bp 3'