Canonical Allele Identifier: CA405692555
Community Standard Title: NM_000540.3(RYR1):c.14868G>T (p.Glu4956Asp)
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38586002G>T , CM000681.2:g.38586002G>T GRCh38
NC_000019.9:g.39076642G>T , CM000681.1:g.39076642G>T GRCh37
NC_000019.8:g.43768482G>T NCBI36
NG_008866.1:g.157303G>T , LRG_766:g.157303G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.14868G>T MANE Select NP_000531.2:p.Glu4956Asp
ENST00000359596.8:c.14868G>T MANE Select ENSP00000352608.2:p.Glu4956Asp
NM_000540.2:c.14868G>T , LRG_766t1:c.14868G>T NP_000531.2:p.Glu4956Asp
NM_001042723.1:c.14853G>T NP_001036188.1:p.Glu4951Asp
NM_001042723.2:c.14853G>T NP_001036188.1:p.Glu4951Asp
ENST00000355481.8:c.14853G>T ENSP00000347667.3:p.Glu4951Asp
ENST00000359596.7:c.14868G>T ENSP00000352608.2:p.Glu4956Asp
ENST00000360985.7:c.14850G>T ENSP00000354254.4:p.Glu4950Asp
ENST00000593677.2:c.1804G>T
ENST00000688602.1:c.3201G>T
ENST00000689936.1:c.3173G>T
ENST00000692547.1:n.261G>T
XM_006723317.1:c.14850G>T XP_006723380.1:p.Glu4950Asp
XM_006723317.2:c.14850G>T XP_006723380.1:p.Glu4950Asp
XM_006723319.1:c.14835G>T XP_006723382.1:p.Glu4945Asp
XM_006723319.2:c.14835G>T XP_006723382.1:p.Glu4945Asp
XM_011527204.1:c.14865G>T XP_011525506.1:p.Glu4955Asp
XM_011527205.1:c.14781G>T XP_011525507.1:p.Glu4927Asp
XM_011527205.2:c.14781G>T XP_011525507.1:p.Glu4927Asp