Canonical Allele Identifier: CA2335046164
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38485648A= , CM000681.2:g.38485648A= GRCh38
NC_000019.9:g.38976288A= , CM000681.1:g.38976288A= GRCh37
NC_000019.8:g.43668128A= NCBI36
NG_008866.1:g.56949A= , LRG_766:g.56949A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.4993A= ENSP00000471601.2:p.Thr1665=
ENST00000359596.8:c.4993A= MANE Select ENSP00000352608.2:p.Thr1665=
ENST00000355481.8:c.4993A= ENSP00000347667.3:p.Thr1665=
ENST00000359596.7:c.4993A= ENSP00000352608.2:p.Thr1665=
ENST00000360985.7:c.4990A= ENSP00000354254.4:p.Thr1664=
NM_000540.2:c.4993A= , LRG_766t1:c.4993A= NP_000531.2:p.Thr1665=
NM_001042723.1:c.4993A= NP_001036188.1:p.Thr1665=
XM_006723317.1:c.4993A= XP_006723380.1:p.Thr1665=
XM_006723319.1:c.4993A= XP_006723382.1:p.Thr1665=
XM_011527204.1:c.4990A= XP_011525506.1:p.Thr1664=
XM_011527205.1:c.4993A= XP_011525507.1:p.Thr1665=
XM_006723317.2:c.4993A= XP_006723380.1:p.Thr1665=
XM_006723319.2:c.4993A= XP_006723382.1:p.Thr1665=
XM_011527205.2:c.4993A= XP_011525507.1:p.Thr1665=
XR_001753735.1:n.5076A=
NM_000540.3:c.4993A= MANE Select NP_000531.2:p.Thr1665=
NM_001042723.2:c.4993A= NP_001036188.1:p.Thr1665=
Search 100 bp 5'
Search 100 bp 3'