Canonical Allele Identifier: CA405692547
Community Standard Title: NM_000540.3(RYR1):c.14867A>T (p.Glu4956Val)
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38586001A>T , CM000681.2:g.38586001A>T GRCh38
NC_000019.9:g.39076641A>T , CM000681.1:g.39076641A>T GRCh37
NC_000019.8:g.43768481A>T NCBI36
NG_008866.1:g.157302A>T , LRG_766:g.157302A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.14867A>T MANE Select NP_000531.2:p.Glu4956Val
ENST00000359596.8:c.14867A>T MANE Select ENSP00000352608.2:p.Glu4956Val
NM_000540.2:c.14867A>T , LRG_766t1:c.14867A>T NP_000531.2:p.Glu4956Val
NM_001042723.1:c.14852A>T NP_001036188.1:p.Glu4951Val
NM_001042723.2:c.14852A>T NP_001036188.1:p.Glu4951Val
ENST00000355481.8:c.14852A>T ENSP00000347667.3:p.Glu4951Val
ENST00000359596.7:c.14867A>T ENSP00000352608.2:p.Glu4956Val
ENST00000360985.7:c.14849A>T ENSP00000354254.4:p.Glu4950Val
ENST00000593677.2:c.1803A>T
ENST00000688602.1:c.3200A>T
ENST00000689936.1:c.3172A>T
ENST00000692547.1:n.260A>T
XM_006723317.1:c.14849A>T XP_006723380.1:p.Glu4950Val
XM_006723317.2:c.14849A>T XP_006723380.1:p.Glu4950Val
XM_006723319.1:c.14834A>T XP_006723382.1:p.Glu4945Val
XM_006723319.2:c.14834A>T XP_006723382.1:p.Glu4945Val
XM_011527204.1:c.14864A>T XP_011525506.1:p.Glu4955Val
XM_011527205.1:c.14780A>T XP_011525507.1:p.Glu4927Val
XM_011527205.2:c.14780A>T XP_011525507.1:p.Glu4927Val