Canonical Allele Identifier: CA405681421
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38572236C>A , CM000681.2:g.38572236C>A GRCh38
NC_000019.9:g.39062876C>A , CM000681.1:g.39062876C>A GRCh37
NC_000019.8:g.43754716C>A NCBI36
NG_008866.1:g.143537C>A , LRG_766:g.143537C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.900C>A
ENST00000688602.1:c.2297C>A
ENST00000689936.1:c.2269C>A
ENST00000359596.8:c.13964C>A MANE Select ENSP00000352608.2:p.Ala4655Asp
ENST00000355481.8:c.13949C>A ENSP00000347667.3:p.Ala4650Asp
ENST00000359596.7:c.13964C>A ENSP00000352608.2:p.Ala4655Asp
ENST00000360985.7:c.13946C>A ENSP00000354254.4:p.Ala4649Asp
ENST00000593677.1:c.424C>A
NM_000540.2:c.13964C>A , LRG_766t1:c.13964C>A NP_000531.2:p.Ala4655Asp
NM_001042723.1:c.13949C>A NP_001036188.1:p.Ala4650Asp
XM_006723317.1:c.13946C>A XP_006723380.1:p.Ala4649Asp
XM_006723319.1:c.13931C>A XP_006723382.1:p.Ala4644Asp
XM_011527204.1:c.13961C>A XP_011525506.1:p.Ala4654Asp
XM_011527205.1:c.13877C>A XP_011525507.1:p.Ala4626Asp
XM_006723317.2:c.13946C>A XP_006723380.1:p.Ala4649Asp
XM_006723319.2:c.13931C>A XP_006723382.1:p.Ala4644Asp
XM_011527205.2:c.13877C>A XP_011525507.1:p.Ala4626Asp
NM_000540.3:c.13964C>A MANE Select NP_000531.2:p.Ala4655Asp
NM_001042723.2:c.13949C>A NP_001036188.1:p.Ala4650Asp