Canonical Allele Identifier: CA405694067
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38587344T>C , CM000681.2:g.38587344T>C GRCh38
NC_000019.9:g.39077984T>C , CM000681.1:g.39077984T>C GRCh37
NC_000019.8:g.43769824T>C NCBI36
NG_008866.1:g.158645T>C , LRG_766:g.158645T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1957+768T>C
ENST00000688602.1:c.3374T>C
ENST00000689936.1:c.3346T>C
ENST00000692547.1:n.434T>C
ENST00000359596.8:c.15041T>C MANE Select ENSP00000352608.2:p.Met5014Thr
ENST00000355481.8:c.15026T>C ENSP00000347667.3:p.Met5009Thr
ENST00000359596.7:c.15041T>C ENSP00000352608.2:p.Met5014Thr
ENST00000360985.7:c.15023T>C ENSP00000354254.4:p.Met5008Thr
NM_000540.2:c.15041T>C , LRG_766t1:c.15041T>C NP_000531.2:p.Met5014Thr
NM_001042723.1:c.15026T>C NP_001036188.1:p.Met5009Thr
XM_006723317.1:c.15023T>C XP_006723380.1:p.Met5008Thr
XM_006723319.1:c.15008T>C XP_006723382.1:p.Met5003Thr
XM_011527204.1:c.15038T>C XP_011525506.1:p.Met5013Thr
XM_011527205.1:c.14954T>C XP_011525507.1:p.Met4985Thr
XM_006723317.2:c.15023T>C XP_006723380.1:p.Met5008Thr
XM_006723319.2:c.15008T>C XP_006723382.1:p.Met5003Thr
XM_011527205.2:c.14954T>C XP_011525507.1:p.Met4985Thr
NM_000540.3:c.15041T>C MANE Select NP_000531.2:p.Met5014Thr
NM_001042723.2:c.15026T>C NP_001036188.1:p.Met5009Thr