Canonical Allele Identifier: CA405687292
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580087C>A , CM000681.2:g.38580087C>A GRCh38
NC_000019.9:g.39070727C>A , CM000681.1:g.39070727C>A GRCh37
NC_000019.8:g.43762567C>A NCBI36
NG_008866.1:g.151388C>A , LRG_766:g.151388C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1406C>A
ENST00000688602.1:c.2803C>A
ENST00000689936.1:c.2775C>A
ENST00000359596.8:c.14470C>A MANE Select ENSP00000352608.2:p.Leu4824Met
ENST00000355481.8:c.14455C>A ENSP00000347667.3:p.Leu4819Met
ENST00000359596.7:c.14470C>A ENSP00000352608.2:p.Leu4824Met
ENST00000360985.7:c.14452C>A ENSP00000354254.4:p.Leu4818Met
NM_000540.2:c.14470C>A , LRG_766t1:c.14470C>A NP_000531.2:p.Leu4824Met
NM_001042723.1:c.14455C>A NP_001036188.1:p.Leu4819Met
XM_006723317.1:c.14452C>A XP_006723380.1:p.Leu4818Met
XM_006723319.1:c.14437C>A XP_006723382.1:p.Leu4813Met
XM_011527204.1:c.14467C>A XP_011525506.1:p.Leu4823Met
XM_011527205.1:c.14383C>A XP_011525507.1:p.Leu4795Met
XM_006723317.2:c.14452C>A XP_006723380.1:p.Leu4818Met
XM_006723319.2:c.14437C>A XP_006723382.1:p.Leu4813Met
XM_011527205.2:c.14383C>A XP_011525507.1:p.Leu4795Met
NM_000540.3:c.14470C>A MANE Select NP_000531.2:p.Leu4824Met
NM_001042723.2:c.14455C>A NP_001036188.1:p.Leu4819Met