Canonical Allele Identifier: CA2335052619
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499183T= , CM000681.2:g.38499183T= GRCh38
NC_000019.9:g.38989823T= , CM000681.1:g.38989823T= GRCh37
NC_000019.8:g.43681663T= NCBI36
NG_008866.1:g.70484T= , LRG_766:g.70484T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.6967T= ENSP00000471601.2:p.Trp2323=
ENST00000359596.8:c.6967T= MANE Select ENSP00000352608.2:p.Trp2323=
ENST00000355481.8:c.6967T= ENSP00000347667.3:p.Trp2323=
ENST00000359596.7:c.6967T= ENSP00000352608.2:p.Trp2323=
ENST00000360985.7:c.6964T= ENSP00000354254.4:p.Trp2322=
ENST00000594335.5:c.419T=
NM_000540.2:c.6967T= , LRG_766t1:c.6967T= NP_000531.2:p.Trp2323=
NM_001042723.1:c.6967T= NP_001036188.1:p.Trp2323=
XM_006723317.1:c.6967T= XP_006723380.1:p.Trp2323=
XM_006723319.1:c.6967T= XP_006723382.1:p.Trp2323=
XM_011527204.1:c.6964T= XP_011525506.1:p.Trp2322=
XM_011527205.1:c.6967T= XP_011525507.1:p.Trp2323=
XM_006723317.2:c.6967T= XP_006723380.1:p.Trp2323=
XM_006723319.2:c.6967T= XP_006723382.1:p.Trp2323=
XM_011527205.2:c.6967T= XP_011525507.1:p.Trp2323=
XR_001753735.1:n.7050T=
NM_000540.3:c.6967T= MANE Select NP_000531.2:p.Trp2323=
NM_001042723.2:c.6967T= NP_001036188.1:p.Trp2323=
Search 100 bp 5'
Search 100 bp 3'