Canonical Allele Identifier: CA405687669
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1974147396

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580407A>G , CM000681.2:g.38580407A>G GRCh38
NC_000019.9:g.39071047A>G , CM000681.1:g.39071047A>G GRCh37
NC_000019.8:g.43762887A>G NCBI36
NG_008866.1:g.151708A>G , LRG_766:g.151708A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1485A>G
ENST00000688602.1:c.2882A>G
ENST00000689936.1:c.2854A>G
ENST00000359596.8:c.14549A>G MANE Select ENSP00000352608.2:p.Tyr4850Cys
ENST00000355481.8:c.14534A>G ENSP00000347667.3:p.Tyr4845Cys
ENST00000359596.7:c.14549A>G ENSP00000352608.2:p.Tyr4850Cys
ENST00000360985.7:c.14531A>G ENSP00000354254.4:p.Tyr4844Cys
NM_000540.2:c.14549A>G , LRG_766t1:c.14549A>G NP_000531.2:p.Tyr4850Cys
NM_001042723.1:c.14534A>G NP_001036188.1:p.Tyr4845Cys
XM_006723317.1:c.14531A>G XP_006723380.1:p.Tyr4844Cys
XM_006723319.1:c.14516A>G XP_006723382.1:p.Tyr4839Cys
XM_011527204.1:c.14546A>G XP_011525506.1:p.Tyr4849Cys
XM_011527205.1:c.14462A>G XP_011525507.1:p.Tyr4821Cys
XM_006723317.2:c.14531A>G XP_006723380.1:p.Tyr4844Cys
XM_006723319.2:c.14516A>G XP_006723382.1:p.Tyr4839Cys
XM_011527205.2:c.14462A>G XP_011525507.1:p.Tyr4821Cys
NM_000540.3:c.14549A>G MANE Select NP_000531.2:p.Tyr4850Cys
NM_001042723.2:c.14534A>G NP_001036188.1:p.Tyr4845Cys