Canonical Allele Identifier: CA405688047
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580484A>T , CM000681.2:g.38580484A>T GRCh38
NC_000019.9:g.39071124A>T , CM000681.1:g.39071124A>T GRCh37
NC_000019.8:g.43762964A>T NCBI36
NG_008866.1:g.151785A>T , LRG_766:g.151785A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1562A>T
ENST00000688602.1:c.2959A>T
ENST00000689936.1:c.2931A>T
ENST00000359596.8:c.14626A>T MANE Select ENSP00000352608.2:p.Lys4876Ter
ENST00000355481.8:c.14611A>T ENSP00000347667.3:p.Lys4871Ter
ENST00000359596.7:c.14626A>T ENSP00000352608.2:p.Lys4876Ter
ENST00000360985.7:c.14608A>T ENSP00000354254.4:p.Lys4870Ter
NM_000540.2:c.14626A>T , LRG_766t1:c.14626A>T NP_000531.2:p.Lys4876Ter
NM_001042723.1:c.14611A>T NP_001036188.1:p.Lys4871Ter
XM_006723317.1:c.14608A>T XP_006723380.1:p.Lys4870Ter
XM_006723319.1:c.14593A>T XP_006723382.1:p.Lys4865Ter
XM_011527204.1:c.14623A>T XP_011525506.1:p.Lys4875Ter
XM_011527205.1:c.14539A>T XP_011525507.1:p.Lys4847Ter
XM_006723317.2:c.14608A>T XP_006723380.1:p.Lys4870Ter
XM_006723319.2:c.14593A>T XP_006723382.1:p.Lys4865Ter
XM_011527205.2:c.14539A>T XP_011525507.1:p.Lys4847Ter
NM_000540.3:c.14626A>T MANE Select NP_000531.2:p.Lys4876Ter
NM_001042723.2:c.14611A>T NP_001036188.1:p.Lys4871Ter