Canonical Allele Identifier: CA405691202
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38585098G>T , CM000681.2:g.38585098G>T GRCh38
NC_000019.9:g.39075738G>T , CM000681.1:g.39075738G>T GRCh37
NC_000019.8:g.43767578G>T NCBI36
NG_008866.1:g.156399G>T , LRG_766:g.156399G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1738G>T
ENST00000688602.1:c.3135G>T
ENST00000689936.1:c.3107G>T
ENST00000692547.1:n.195G>T
ENST00000359596.8:c.14802G>T MANE Select ENSP00000352608.2:p.Gln4934His
ENST00000355481.8:c.14787G>T ENSP00000347667.3:p.Gln4929His
ENST00000359596.7:c.14802G>T ENSP00000352608.2:p.Gln4934His
ENST00000360985.7:c.14784G>T ENSP00000354254.4:p.Gln4928His
NM_000540.2:c.14802G>T , LRG_766t1:c.14802G>T NP_000531.2:p.Gln4934His
NM_001042723.1:c.14787G>T NP_001036188.1:p.Gln4929His
XM_006723317.1:c.14784G>T XP_006723380.1:p.Gln4928His
XM_006723319.1:c.14769G>T XP_006723382.1:p.Gln4923His
XM_011527204.1:c.14799G>T XP_011525506.1:p.Gln4933His
XM_011527205.1:c.14715G>T XP_011525507.1:p.Gln4905His
XM_006723317.2:c.14784G>T XP_006723380.1:p.Gln4928His
XM_006723319.2:c.14769G>T XP_006723382.1:p.Gln4923His
XM_011527205.2:c.14715G>T XP_011525507.1:p.Gln4905His
NM_000540.3:c.14802G>T MANE Select NP_000531.2:p.Gln4934His
NM_001042723.2:c.14787G>T NP_001036188.1:p.Gln4929His