Canonical Allele Identifier: CA2335088875
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573006A= , CM000681.2:g.38573006A= GRCh38
NC_000019.9:g.39063646A= , CM000681.1:g.39063646A= GRCh37
NC_000019.8:g.43755486A= NCBI36
NG_008866.1:g.144307A= , LRG_766:g.144307A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.935-171A=
ENST00000688602.1:c.2332-171A=
ENST00000689936.1:c.2304-171A=
ENST00000359596.8:c.13999-171A= MANE Select ENSP00000352608.2:n.13999-171A=
ENST00000355481.8:c.13984-171A= ENSP00000347667.3:n.13984-171A=
ENST00000359596.7:c.13999-171A= ENSP00000352608.2:n.13999-171A=
ENST00000360985.7:c.13981-171A= ENSP00000354254.4:n.13981-171A=
NM_000540.2:c.13999-171A= , LRG_766t1:c.13999-171A= NP_000531.2:n.13999-171A=
NM_001042723.1:c.13984-171A= NP_001036188.1:n.13984-171A=
XM_006723317.1:c.13981-171A= XP_006723380.1:n.13981-171A=
XM_006723319.1:c.13966-171A= XP_006723382.1:n.13966-171A=
XM_011527204.1:c.13996-171A= XP_011525506.1:n.13996-171A=
XM_011527205.1:c.13912-171A= XP_011525507.1:n.13912-171A=
XM_006723317.2:c.13981-171A= XP_006723380.1:n.13981-171A=
XM_006723319.2:c.13966-171A= XP_006723382.1:n.13966-171A=
XM_011527205.2:c.13912-171A= XP_011525507.1:n.13912-171A=
NM_000540.3:c.13999-171A= MANE Select NP_000531.2:n.13999-171A=
NM_001042723.2:c.13984-171A= NP_001036188.1:n.13984-171A=
Search 100 bp 5'
Search 100 bp 3'