Canonical Allele Identifier: CA055885
Community Standard Title: NM_000540.3(RYR1):c.11132C>T (p.Thr3711Met)
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38529048C>T , CM000681.2:g.38529048C>T GRCh38
NC_000019.9:g.39019688C>T , CM000681.1:g.39019688C>T GRCh37
NC_000019.8:g.43711528C>T NCBI36
NG_008866.1:g.100349C>T , LRG_766:g.100349C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.11132C>T MANE Select NP_000531.2:p.Thr3711Met
ENST00000359596.8:c.11132C>T MANE Select ENSP00000352608.2:p.Thr3711Met
NM_000540.2:c.11132C>T , LRG_766t1:c.11132C>T NP_000531.2:p.Thr3711Met
NM_001042723.1:c.11117C>T NP_001036188.1:p.Thr3706Met
NM_001042723.2:c.11117C>T NP_001036188.1:p.Thr3706Met
ENST00000355481.8:c.11117C>T ENSP00000347667.3:p.Thr3706Met
ENST00000359596.7:c.11132C>T ENSP00000352608.2:p.Thr3711Met
ENST00000360985.7:c.11114C>T ENSP00000354254.4:p.Thr3705Met
ENST00000594335.5:c.4519C>T
ENST00000599547.5:c.1939C>T
ENST00000599547.6:c.11071C>T ENSP00000471601.2:n.11071C>T
ENST00000601514.5:c.413C>T ENSP00000472497.1:p.Thr138Met
XM_006723317.1:c.11132C>T XP_006723380.1:p.Thr3711Met
XM_006723317.2:c.11132C>T XP_006723380.1:p.Thr3711Met
XM_006723319.1:c.11117C>T XP_006723382.1:p.Thr3706Met
XM_006723319.2:c.11117C>T XP_006723382.1:p.Thr3706Met
XM_011527204.1:c.11129C>T XP_011525506.1:p.Thr3710Met
XM_011527205.1:c.11132C>T XP_011525507.1:p.Thr3711Met
XM_011527205.2:c.11132C>T XP_011525507.1:p.Thr3711Met