Canonical Allele Identifier: CA2335052847
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499644_38499647delinsTGGA , CM000681.2:g.38499644_38499647delinsTGGA GRCh38
NC_000019.9:g.38990284_38990287delinsTGGA , CM000681.1:g.38990284_38990287delinsTGGA GRCh37
NC_000019.8:g.43682124_43682127delinsTGGA NCBI36
NG_008866.1:g.70945_70948delinsTGGA , LRG_766:g.70945_70948delinsTGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7037_7040delinsTGGA ENSP00000471601.2:p.Val2346=
ENST00000359596.8:c.7037_7040delinsTGGA MANE Select ENSP00000352608.2:p.Val2346=
ENST00000355481.8:c.7037_7040delinsTGGA ENSP00000347667.3:p.Val2346=
ENST00000359596.7:c.7037_7040delinsTGGA ENSP00000352608.2:p.Val2346=
ENST00000360985.7:c.7034_7037delinsTGGA ENSP00000354254.4:p.Val2345=
ENST00000594335.5:c.489_492delinsTGGA
NM_000540.2:c.7037_7040delinsTGGA , LRG_766t1:c.7037_7040delinsTGGA NP_000531.2:p.Val2346=
NM_001042723.1:c.7037_7040delinsTGGA NP_001036188.1:p.Val2346=
XM_006723317.1:c.7037_7040delinsTGGA XP_006723380.1:p.Val2346=
XM_006723319.1:c.7037_7040delinsTGGA XP_006723382.1:p.Val2346=
XM_011527204.1:c.7034_7037delinsTGGA XP_011525506.1:p.Val2345=
XM_011527205.1:c.7037_7040delinsTGGA XP_011525507.1:p.Val2346=
XM_006723317.2:c.7037_7040delinsTGGA XP_006723380.1:p.Val2346=
XM_006723319.2:c.7037_7040delinsTGGA XP_006723382.1:p.Val2346=
XM_011527205.2:c.7037_7040delinsTGGA XP_011525507.1:p.Val2346=
XR_001753735.1:n.7120_7123delinsTGGA
NM_000540.3:c.7037_7040delinsTGGA MANE Select NP_000531.2:p.Val2346=
NM_001042723.2:c.7037_7040delinsTGGA NP_001036188.1:p.Val2346=