Canonical Allele Identifier: CA507246603
Community Standard Title: NM_000540.3(RYR1):c.14859G>A (p.Glu4953=)
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38585993G>A , CM000681.2:g.38585993G>A GRCh38
NC_000019.9:g.39076633G>A , CM000681.1:g.39076633G>A GRCh37
NC_000019.8:g.43768473G>A NCBI36
NG_008866.1:g.157294G>A , LRG_766:g.157294G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.14859G>A MANE Select NP_000531.2:p.Glu4953=
ENST00000359596.8:c.14859G>A MANE Select ENSP00000352608.2:p.Glu4953=
NM_000540.2:c.14859G>A , LRG_766t1:c.14859G>A NP_000531.2:p.Glu4953=
NM_001042723.1:c.14844G>A NP_001036188.1:p.Glu4948=
NM_001042723.2:c.14844G>A NP_001036188.1:p.Glu4948=
ENST00000355481.8:c.14844G>A ENSP00000347667.3:p.Glu4948=
ENST00000359596.7:c.14859G>A ENSP00000352608.2:p.Glu4953=
ENST00000360985.7:c.14841G>A ENSP00000354254.4:p.Glu4947=
ENST00000593677.2:c.1795G>A
ENST00000688602.1:c.3192G>A
ENST00000689936.1:c.3164G>A
ENST00000692547.1:n.252G>A
XM_006723317.1:c.14841G>A XP_006723380.1:p.Glu4947=
XM_006723317.2:c.14841G>A XP_006723380.1:p.Glu4947=
XM_006723319.1:c.14826G>A XP_006723382.1:p.Glu4942=
XM_006723319.2:c.14826G>A XP_006723382.1:p.Glu4942=
XM_011527204.1:c.14856G>A XP_011525506.1:p.Glu4952=
XM_011527205.1:c.14772G>A XP_011525507.1:p.Glu4924=
XM_011527205.2:c.14772G>A XP_011525507.1:p.Glu4924=