Canonical Allele Identifier: CA405653782
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.38976399C>A (hg19) chr19:g.38485759C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485759C>A , CM000681.2:g.38485759C>A GRCh38
NC_000019.9:g.38976399C>A , CM000681.1:g.38976399C>A GRCh37
NC_000019.8:g.43668239C>A NCBI36
NG_008866.1:g.57060C>A , LRG_766:g.57060C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5104C>A ENSP00000471601.2:p.Leu1702Met
ENST00000359596.8:c.5104C>A MANE Select ENSP00000352608.2:p.Leu1702Met
ENST00000355481.8:c.5104C>A ENSP00000347667.3:p.Leu1702Met
ENST00000359596.7:c.5104C>A ENSP00000352608.2:p.Leu1702Met
ENST00000360985.7:c.5101C>A ENSP00000354254.4:p.Leu1701Met
NM_000540.2:c.5104C>A , LRG_766t1:c.5104C>A NP_000531.2:p.Leu1702Met
NM_001042723.1:c.5104C>A NP_001036188.1:p.Leu1702Met
XM_006723317.1:c.5104C>A XP_006723380.1:p.Leu1702Met
XM_006723319.1:c.5104C>A XP_006723382.1:p.Leu1702Met
XM_011527204.1:c.5101C>A XP_011525506.1:p.Leu1701Met
XM_011527205.1:c.5104C>A XP_011525507.1:p.Leu1702Met
XM_006723317.2:c.5104C>A XP_006723380.1:p.Leu1702Met
XM_006723319.2:c.5104C>A XP_006723382.1:p.Leu1702Met
XM_011527205.2:c.5104C>A XP_011525507.1:p.Leu1702Met
XR_001753735.1:n.5187C>A
NM_000540.3:c.5104C>A MANE Select NP_000531.2:p.Leu1702Met
NM_001042723.2:c.5104C>A NP_001036188.1:p.Leu1702Met
Search 100 bp 5'
Search 100 bp 3'