Canonical Allele Identifier: CA2335091336
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578038C= , CM000681.2:g.38578038C= GRCh38
NC_000019.9:g.39068678C= , CM000681.1:g.39068678C= GRCh37
NC_000019.8:g.43760518C= NCBI36
NG_008866.1:g.149339C= , LRG_766:g.149339C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1229C=
ENST00000688602.1:c.2626C=
ENST00000689936.1:c.2598C=
ENST00000359596.8:c.14293C= MANE Select ENSP00000352608.2:p.Leu4765=
ENST00000355481.8:c.14278C= ENSP00000347667.3:p.Leu4760=
ENST00000359596.7:c.14293C= ENSP00000352608.2:p.Leu4765=
ENST00000360985.7:c.14275C= ENSP00000354254.4:p.Leu4759=
NM_000540.2:c.14293C= , LRG_766t1:c.14293C= NP_000531.2:p.Leu4765=
NM_001042723.1:c.14278C= NP_001036188.1:p.Leu4760=
XM_006723317.1:c.14275C= XP_006723380.1:p.Leu4759=
XM_006723319.1:c.14260C= XP_006723382.1:p.Leu4754=
XM_011527204.1:c.14290C= XP_011525506.1:p.Leu4764=
XM_011527205.1:c.14206C= XP_011525507.1:p.Leu4736=
XM_006723317.2:c.14275C= XP_006723380.1:p.Leu4759=
XM_006723319.2:c.14260C= XP_006723382.1:p.Leu4754=
XM_011527205.2:c.14206C= XP_011525507.1:p.Leu4736=
NM_000540.3:c.14293C= MANE Select NP_000531.2:p.Leu4765=
NM_001042723.2:c.14278C= NP_001036188.1:p.Leu4760=