Canonical Allele Identifier: CA405682162
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39063869T>A (hg19) chr19:g.38573229T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573229T>A , CM000681.2:g.38573229T>A GRCh38
NC_000019.9:g.39063869T>A , CM000681.1:g.39063869T>A GRCh37
NC_000019.8:g.43755709T>A NCBI36
NG_008866.1:g.144530T>A , LRG_766:g.144530T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.987T>A
ENST00000688602.1:c.2384T>A
ENST00000689936.1:c.2356T>A
ENST00000359596.8:c.14051T>A MANE Select ENSP00000352608.2:p.Phe4684Tyr
ENST00000355481.8:c.14036T>A ENSP00000347667.3:p.Phe4679Tyr
ENST00000359596.7:c.14051T>A ENSP00000352608.2:p.Phe4684Tyr
ENST00000360985.7:c.14033T>A ENSP00000354254.4:p.Phe4678Tyr
NM_000540.2:c.14051T>A , LRG_766t1:c.14051T>A NP_000531.2:p.Phe4684Tyr
NM_001042723.1:c.14036T>A NP_001036188.1:p.Phe4679Tyr
XM_006723317.1:c.14033T>A XP_006723380.1:p.Phe4678Tyr
XM_006723319.1:c.14018T>A XP_006723382.1:p.Phe4673Tyr
XM_011527204.1:c.14048T>A XP_011525506.1:p.Phe4683Tyr
XM_011527205.1:c.13964T>A XP_011525507.1:p.Phe4655Tyr
XM_006723317.2:c.14033T>A XP_006723380.1:p.Phe4678Tyr
XM_006723319.2:c.14018T>A XP_006723382.1:p.Phe4673Tyr
XM_011527205.2:c.13964T>A XP_011525507.1:p.Phe4655Tyr
NM_000540.3:c.14051T>A MANE Select NP_000531.2:p.Phe4684Tyr
NM_001042723.2:c.14036T>A NP_001036188.1:p.Phe4679Tyr
Search 100 bp 5'
Search 100 bp 3'