Canonical Allele Identifier: CA405684988
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068786T>A (hg19) chr19:g.38578146T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578146T>A , CM000681.2:g.38578146T>A GRCh38
NC_000019.9:g.39068786T>A , CM000681.1:g.39068786T>A GRCh37
NC_000019.8:g.43760626T>A NCBI36
NG_008866.1:g.149447T>A , LRG_766:g.149447T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1242T>A
ENST00000688602.1:c.2639T>A
ENST00000689936.1:c.2611T>A
ENST00000359596.8:c.14306T>A MANE Select ENSP00000352608.2:p.Leu4769His
ENST00000355481.8:c.14291T>A ENSP00000347667.3:p.Leu4764His
ENST00000359596.7:c.14306T>A ENSP00000352608.2:p.Leu4769His
ENST00000360985.7:c.14288T>A ENSP00000354254.4:p.Leu4763His
NM_000540.2:c.14306T>A , LRG_766t1:c.14306T>A NP_000531.2:p.Leu4769His
NM_001042723.1:c.14291T>A NP_001036188.1:p.Leu4764His
XM_006723317.1:c.14288T>A XP_006723380.1:p.Leu4763His
XM_006723319.1:c.14273T>A XP_006723382.1:p.Leu4758His
XM_011527204.1:c.14303T>A XP_011525506.1:p.Leu4768His
XM_011527205.1:c.14219T>A XP_011525507.1:p.Leu4740His
XM_006723317.2:c.14288T>A XP_006723380.1:p.Leu4763His
XM_006723319.2:c.14273T>A XP_006723382.1:p.Leu4758His
XM_011527205.2:c.14219T>A XP_011525507.1:p.Leu4740His
NM_000540.3:c.14306T>A MANE Select NP_000531.2:p.Leu4769His
NM_001042723.2:c.14291T>A NP_001036188.1:p.Leu4764His
Search 100 bp 5'
Search 100 bp 3'