Canonical Allele Identifier: CA405671231
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1317113967

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565148G>C , CM000681.2:g.38565148G>C GRCh38
NC_000019.9:g.39055788G>C , CM000681.1:g.39055788G>C GRCh37
NC_000019.8:g.43747628G>C NCBI36
NG_008866.1:g.136449G>C , LRG_766:g.136449G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1224G>C
ENST00000689936.1:c.1206G>C
ENST00000359596.8:c.12814G>C MANE Select ENSP00000352608.2:p.Ala4272Pro
ENST00000355481.8:c.12799G>C ENSP00000347667.3:p.Ala4267Pro
ENST00000359596.7:c.12814G>C ENSP00000352608.2:p.Ala4272Pro
ENST00000360985.7:c.12796G>C ENSP00000354254.4:p.Ala4266Pro
ENST00000594335.5:c.6183G>C
NM_000540.2:c.12814G>C , LRG_766t1:c.12814G>C NP_000531.2:p.Ala4272Pro
NM_001042723.1:c.12799G>C NP_001036188.1:p.Ala4267Pro
XM_006723317.1:c.12796G>C XP_006723380.1:p.Ala4266Pro
XM_006723319.1:c.12781G>C XP_006723382.1:p.Ala4261Pro
XM_011527204.1:c.12811G>C XP_011525506.1:p.Ala4271Pro
XM_011527205.1:c.12814G>C XP_011525507.1:p.Ala4272Pro
XM_006723317.2:c.12796G>C XP_006723380.1:p.Ala4266Pro
XM_006723319.2:c.12781G>C XP_006723382.1:p.Ala4261Pro
XM_011527205.2:c.12814G>C XP_011525507.1:p.Ala4272Pro
NM_000540.3:c.12814G>C MANE Select NP_000531.2:p.Ala4272Pro
NM_001042723.2:c.12799G>C NP_001036188.1:p.Ala4267Pro