Canonical Allele Identifier: CA405673810
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565493A>T , CM000681.2:g.38565493A>T GRCh38
NC_000019.9:g.39056133A>T , CM000681.1:g.39056133A>T GRCh37
NC_000019.8:g.43747973A>T NCBI36
NG_008866.1:g.136794A>T , LRG_766:g.136794A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.95A>T
ENST00000688602.1:c.1569A>T
ENST00000689936.1:c.1551A>T
ENST00000359596.8:c.13159A>T MANE Select ENSP00000352608.2:p.Thr4387Ser
ENST00000355481.8:c.13144A>T ENSP00000347667.3:p.Thr4382Ser
ENST00000359596.7:c.13159A>T ENSP00000352608.2:p.Thr4387Ser
ENST00000360985.7:c.13141A>T ENSP00000354254.4:p.Thr4381Ser
NM_000540.2:c.13159A>T , LRG_766t1:c.13159A>T NP_000531.2:p.Thr4387Ser
NM_001042723.1:c.13144A>T NP_001036188.1:p.Thr4382Ser
XM_006723317.1:c.13141A>T XP_006723380.1:p.Thr4381Ser
XM_006723319.1:c.13126A>T XP_006723382.1:p.Thr4376Ser
XM_011527204.1:c.13156A>T XP_011525506.1:p.Thr4386Ser
XM_011527205.1:c.13159A>T XP_011525507.1:p.Thr4387Ser
XM_006723317.2:c.13141A>T XP_006723380.1:p.Thr4381Ser
XM_006723319.2:c.13126A>T XP_006723382.1:p.Thr4376Ser
XM_011527205.2:c.13159A>T XP_011525507.1:p.Thr4387Ser
NM_000540.3:c.13159A>T MANE Select NP_000531.2:p.Thr4387Ser
NM_001042723.2:c.13144A>T NP_001036188.1:p.Thr4382Ser