Canonical Allele Identifier: CA2335054049
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502609G= , CM000681.2:g.38502609G= GRCh38
NC_000019.9:g.38993249G= , CM000681.1:g.38993249G= GRCh37
NC_000019.8:g.43685089G= NCBI36
NG_008866.1:g.73910G= , LRG_766:g.73910G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7717G= ENSP00000471601.2:p.Glu2573=
ENST00000359596.8:c.7717G= MANE Select ENSP00000352608.2:p.Glu2573=
ENST00000355481.8:c.7717G= ENSP00000347667.3:p.Glu2573=
ENST00000359596.7:c.7717G= ENSP00000352608.2:p.Glu2573=
ENST00000360985.7:c.7714G= ENSP00000354254.4:p.Glu2572=
ENST00000594335.5:c.1169G=
NM_000540.2:c.7717G= , LRG_766t1:c.7717G= NP_000531.2:p.Glu2573=
NM_001042723.1:c.7717G= NP_001036188.1:p.Glu2573=
XM_006723317.1:c.7717G= XP_006723380.1:p.Glu2573=
XM_006723319.1:c.7717G= XP_006723382.1:p.Glu2573=
XM_011527204.1:c.7714G= XP_011525506.1:p.Glu2572=
XM_011527205.1:c.7717G= XP_011525507.1:p.Glu2573=
XM_006723317.2:c.7717G= XP_006723380.1:p.Glu2573=
XM_006723319.2:c.7717G= XP_006723382.1:p.Glu2573=
XM_011527205.2:c.7717G= XP_011525507.1:p.Glu2573=
XR_001753735.1:n.7800G=
NM_000540.3:c.7717G= MANE Select NP_000531.2:p.Glu2573=
NM_001042723.2:c.7717G= NP_001036188.1:p.Glu2573=