Canonical Allele Identifier: CA507245768
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068599T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577959T>A , CM000681.2:g.38577959T>A GRCh38
NC_000019.9:g.39068599T>A , CM000681.1:g.39068599T>A GRCh37
NC_000019.8:g.43760439T>A NCBI36
NG_008866.1:g.149260T>A , LRG_766:g.149260T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1150T>A
ENST00000688602.1:c.2547T>A
ENST00000689936.1:c.2519T>A
ENST00000359596.8:c.14214T>A MANE Select ENSP00000352608.2:p.Ile4738=
ENST00000355481.8:c.14199T>A ENSP00000347667.3:p.Ile4733=
ENST00000359596.7:c.14214T>A ENSP00000352608.2:p.Ile4738=
ENST00000360985.7:c.14196T>A ENSP00000354254.4:p.Ile4732=
NM_000540.2:c.14214T>A , LRG_766t1:c.14214T>A NP_000531.2:p.Ile4738=
NM_001042723.1:c.14199T>A NP_001036188.1:p.Ile4733=
XM_006723317.1:c.14196T>A XP_006723380.1:p.Ile4732=
XM_006723319.1:c.14181T>A XP_006723382.1:p.Ile4727=
XM_011527204.1:c.14211T>A XP_011525506.1:p.Ile4737=
XM_011527205.1:c.14127T>A XP_011525507.1:p.Ile4709=
XM_006723317.2:c.14196T>A XP_006723380.1:p.Ile4732=
XM_006723319.2:c.14181T>A XP_006723382.1:p.Ile4727=
XM_011527205.2:c.14127T>A XP_011525507.1:p.Ile4709=
NM_000540.3:c.14214T>A MANE Select NP_000531.2:p.Ile4738=
NM_001042723.2:c.14199T>A NP_001036188.1:p.Ile4733=
Search 100 bp 5'
Search 100 bp 3'