Canonical Allele Identifier: CA059076
Community Standard Title: NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38561383G>A , CM000681.2:g.38561383G>A GRCh38
NC_000019.9:g.39052023G>A , CM000681.1:g.39052023G>A GRCh37
NC_000019.8:g.43743863G>A NCBI36
NG_008866.1:g.132684G>A , LRG_766:g.132684G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.12553G>A MANE Select NP_000531.2:p.Ala4185Thr
ENST00000359596.8:c.12553G>A MANE Select ENSP00000352608.2:p.Ala4185Thr
NM_000540.2:c.12553G>A , LRG_766t1:c.12553G>A NP_000531.2:p.Ala4185Thr
NM_001042723.1:c.12538G>A NP_001036188.1:p.Ala4180Thr
NM_001042723.2:c.12538G>A NP_001036188.1:p.Ala4180Thr
ENST00000355481.8:c.12538G>A ENSP00000347667.3:p.Ala4180Thr
ENST00000359596.7:c.12553G>A ENSP00000352608.2:p.Ala4185Thr
ENST00000360985.7:c.12535G>A ENSP00000354254.4:p.Ala4179Thr
ENST00000594335.5:c.5922G>A
ENST00000688602.1:c.963G>A
ENST00000689936.1:c.945G>A
XM_006723317.1:c.12535G>A XP_006723380.1:p.Ala4179Thr
XM_006723317.2:c.12535G>A XP_006723380.1:p.Ala4179Thr
XM_006723319.1:c.12520G>A XP_006723382.1:p.Ala4174Thr
XM_006723319.2:c.12520G>A XP_006723382.1:p.Ala4174Thr
XM_011527204.1:c.12550G>A XP_011525506.1:p.Ala4184Thr
XM_011527205.1:c.12553G>A XP_011525507.1:p.Ala4185Thr
XM_011527205.2:c.12553G>A XP_011525507.1:p.Ala4185Thr