Canonical Allele Identifier: CA405685445
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578199G>C , CM000681.2:g.38578199G>C GRCh38
NC_000019.9:g.39068839G>C , CM000681.1:g.39068839G>C GRCh37
NC_000019.8:g.43760679G>C NCBI36
NG_008866.1:g.149500G>C , LRG_766:g.149500G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1295G>C
ENST00000688602.1:c.2692G>C
ENST00000689936.1:c.2664G>C
ENST00000359596.8:c.14359G>C MANE Select ENSP00000352608.2:p.Asp4787His
ENST00000355481.8:c.14344G>C ENSP00000347667.3:p.Asp4782His
ENST00000359596.7:c.14359G>C ENSP00000352608.2:p.Asp4787His
ENST00000360985.7:c.14341G>C ENSP00000354254.4:p.Asp4781His
NM_000540.2:c.14359G>C , LRG_766t1:c.14359G>C NP_000531.2:p.Asp4787His
NM_001042723.1:c.14344G>C NP_001036188.1:p.Asp4782His
XM_006723317.1:c.14341G>C XP_006723380.1:p.Asp4781His
XM_006723319.1:c.14326G>C XP_006723382.1:p.Asp4776His
XM_011527204.1:c.14356G>C XP_011525506.1:p.Asp4786His
XM_011527205.1:c.14272G>C XP_011525507.1:p.Asp4758His
XM_006723317.2:c.14341G>C XP_006723380.1:p.Asp4781His
XM_006723319.2:c.14326G>C XP_006723382.1:p.Asp4776His
XM_011527205.2:c.14272G>C XP_011525507.1:p.Asp4758His
NM_000540.3:c.14359G>C MANE Select NP_000531.2:p.Asp4787His
NM_001042723.2:c.14344G>C NP_001036188.1:p.Asp4782His