Canonical Allele Identifier: CA405684676
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068645C>T (hg19) chr19:g.38578005C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578005C>T , CM000681.2:g.38578005C>T GRCh38
NC_000019.9:g.39068645C>T , CM000681.1:g.39068645C>T GRCh37
NC_000019.8:g.43760485C>T NCBI36
NG_008866.1:g.149306C>T , LRG_766:g.149306C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1196C>T
ENST00000688602.1:c.2593C>T
ENST00000689936.1:c.2565C>T
ENST00000359596.8:c.14260C>T MANE Select ENSP00000352608.2:p.His4754Tyr
ENST00000355481.8:c.14245C>T ENSP00000347667.3:p.His4749Tyr
ENST00000359596.7:c.14260C>T ENSP00000352608.2:p.His4754Tyr
ENST00000360985.7:c.14242C>T ENSP00000354254.4:p.His4748Tyr
NM_000540.2:c.14260C>T , LRG_766t1:c.14260C>T NP_000531.2:p.His4754Tyr
NM_001042723.1:c.14245C>T NP_001036188.1:p.His4749Tyr
XM_006723317.1:c.14242C>T XP_006723380.1:p.His4748Tyr
XM_006723319.1:c.14227C>T XP_006723382.1:p.His4743Tyr
XM_011527204.1:c.14257C>T XP_011525506.1:p.His4753Tyr
XM_011527205.1:c.14173C>T XP_011525507.1:p.His4725Tyr
XM_006723317.2:c.14242C>T XP_006723380.1:p.His4748Tyr
XM_006723319.2:c.14227C>T XP_006723382.1:p.His4743Tyr
XM_011527205.2:c.14173C>T XP_011525507.1:p.His4725Tyr
NM_000540.3:c.14260C>T MANE Select NP_000531.2:p.His4754Tyr
NM_001042723.2:c.14245C>T NP_001036188.1:p.His4749Tyr
Search 100 bp 5'
Search 100 bp 3'