Canonical Allele Identifier: CA405690928
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38585063T>A , CM000681.2:g.38585063T>A GRCh38
NC_000019.9:g.39075703T>A , CM000681.1:g.39075703T>A GRCh37
NC_000019.8:g.43767543T>A NCBI36
NG_008866.1:g.156364T>A , LRG_766:g.156364T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1703T>A
ENST00000688602.1:c.3100T>A
ENST00000689936.1:c.3072T>A
ENST00000692547.1:n.160T>A
ENST00000359596.8:c.14767T>A MANE Select ENSP00000352608.2:p.Phe4923Ile
ENST00000355481.8:c.14752T>A ENSP00000347667.3:p.Phe4918Ile
ENST00000359596.7:c.14767T>A ENSP00000352608.2:p.Phe4923Ile
ENST00000360985.7:c.14749T>A ENSP00000354254.4:p.Phe4917Ile
NM_000540.2:c.14767T>A , LRG_766t1:c.14767T>A NP_000531.2:p.Phe4923Ile
NM_001042723.1:c.14752T>A NP_001036188.1:p.Phe4918Ile
XM_006723317.1:c.14749T>A XP_006723380.1:p.Phe4917Ile
XM_006723319.1:c.14734T>A XP_006723382.1:p.Phe4912Ile
XM_011527204.1:c.14764T>A XP_011525506.1:p.Phe4922Ile
XM_011527205.1:c.14680T>A XP_011525507.1:p.Phe4894Ile
XM_006723317.2:c.14749T>A XP_006723380.1:p.Phe4917Ile
XM_006723319.2:c.14734T>A XP_006723382.1:p.Phe4912Ile
XM_011527205.2:c.14680T>A XP_011525507.1:p.Phe4894Ile
NM_000540.3:c.14767T>A MANE Select NP_000531.2:p.Phe4923Ile
NM_001042723.2:c.14752T>A NP_001036188.1:p.Phe4918Ile