Canonical Allele Identifier: CA2335091405
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578171G= , CM000681.2:g.38578171G= GRCh38
NC_000019.9:g.39068811G= , CM000681.1:g.39068811G= GRCh37
NC_000019.8:g.43760651G= NCBI36
NG_008866.1:g.149472G= , LRG_766:g.149472G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1267G=
ENST00000688602.1:c.2664G=
ENST00000689936.1:c.2636G=
ENST00000359596.8:c.14331G= MANE Select ENSP00000352608.2:p.Gln4777=
ENST00000355481.8:c.14316G= ENSP00000347667.3:p.Gln4772=
ENST00000359596.7:c.14331G= ENSP00000352608.2:p.Gln4777=
ENST00000360985.7:c.14313G= ENSP00000354254.4:p.Gln4771=
NM_000540.2:c.14331G= , LRG_766t1:c.14331G= NP_000531.2:p.Gln4777=
NM_001042723.1:c.14316G= NP_001036188.1:p.Gln4772=
XM_006723317.1:c.14313G= XP_006723380.1:p.Gln4771=
XM_006723319.1:c.14298G= XP_006723382.1:p.Gln4766=
XM_011527204.1:c.14328G= XP_011525506.1:p.Gln4776=
XM_011527205.1:c.14244G= XP_011525507.1:p.Gln4748=
XM_006723317.2:c.14313G= XP_006723380.1:p.Gln4771=
XM_006723319.2:c.14298G= XP_006723382.1:p.Gln4766=
XM_011527205.2:c.14244G= XP_011525507.1:p.Gln4748=
NM_000540.3:c.14331G= MANE Select NP_000531.2:p.Gln4777=
NM_001042723.2:c.14316G= NP_001036188.1:p.Gln4772=