Canonical Allele Identifier: CA405684226
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2742310
ClinVar RCV Id: RCV003591265
MyVariant Identifiers: chr19:g.39068571A>G (hg19) chr19:g.38577931A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577931A>G , CM000681.2:g.38577931A>G GRCh38
NC_000019.9:g.39068571A>G , CM000681.1:g.39068571A>G GRCh37
NC_000019.8:g.43760411A>G NCBI36
NG_008866.1:g.149232A>G , LRG_766:g.149232A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1122A>G
ENST00000688602.1:c.2519A>G
ENST00000689936.1:c.2491A>G
ENST00000359596.8:c.14186A>G MANE Select ENSP00000352608.2:p.His4729Arg
ENST00000355481.8:c.14171A>G ENSP00000347667.3:p.His4724Arg
ENST00000359596.7:c.14186A>G ENSP00000352608.2:p.His4729Arg
ENST00000360985.7:c.14168A>G ENSP00000354254.4:p.His4723Arg
NM_000540.2:c.14186A>G , LRG_766t1:c.14186A>G NP_000531.2:p.His4729Arg
NM_001042723.1:c.14171A>G NP_001036188.1:p.His4724Arg
XM_006723317.1:c.14168A>G XP_006723380.1:p.His4723Arg
XM_006723319.1:c.14153A>G XP_006723382.1:p.His4718Arg
XM_011527204.1:c.14183A>G XP_011525506.1:p.His4728Arg
XM_011527205.1:c.14099A>G XP_011525507.1:p.His4700Arg
XM_006723317.2:c.14168A>G XP_006723380.1:p.His4723Arg
XM_006723319.2:c.14153A>G XP_006723382.1:p.His4718Arg
XM_011527205.2:c.14099A>G XP_011525507.1:p.His4700Arg
NM_000540.3:c.14186A>G MANE Select NP_000531.2:p.His4729Arg
NM_001042723.2:c.14171A>G NP_001036188.1:p.His4724Arg
Search 100 bp 5'
Search 100 bp 3'