Canonical Allele Identifier: CA405685241
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578177G>C , CM000681.2:g.38578177G>C GRCh38
NC_000019.9:g.39068817G>C , CM000681.1:g.39068817G>C GRCh37
NC_000019.8:g.43760657G>C NCBI36
NG_008866.1:g.149478G>C , LRG_766:g.149478G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1273G>C
ENST00000688602.1:c.2670G>C
ENST00000689936.1:c.2642G>C
ENST00000359596.8:c.14337G>C MANE Select ENSP00000352608.2:p.Trp4779Cys
ENST00000355481.8:c.14322G>C ENSP00000347667.3:p.Trp4774Cys
ENST00000359596.7:c.14337G>C ENSP00000352608.2:p.Trp4779Cys
ENST00000360985.7:c.14319G>C ENSP00000354254.4:p.Trp4773Cys
NM_000540.2:c.14337G>C , LRG_766t1:c.14337G>C NP_000531.2:p.Trp4779Cys
NM_001042723.1:c.14322G>C NP_001036188.1:p.Trp4774Cys
XM_006723317.1:c.14319G>C XP_006723380.1:p.Trp4773Cys
XM_006723319.1:c.14304G>C XP_006723382.1:p.Trp4768Cys
XM_011527204.1:c.14334G>C XP_011525506.1:p.Trp4778Cys
XM_011527205.1:c.14250G>C XP_011525507.1:p.Trp4750Cys
XM_006723317.2:c.14319G>C XP_006723380.1:p.Trp4773Cys
XM_006723319.2:c.14304G>C XP_006723382.1:p.Trp4768Cys
XM_011527205.2:c.14250G>C XP_011525507.1:p.Trp4750Cys
NM_000540.3:c.14337G>C MANE Select NP_000531.2:p.Trp4779Cys
NM_001042723.2:c.14322G>C NP_001036188.1:p.Trp4774Cys