Canonical Allele Identifier: CA2335089009
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573274A= , CM000681.2:g.38573274A= GRCh38
NC_000019.9:g.39063914A= , CM000681.1:g.39063914A= GRCh37
NC_000019.8:g.43755754A= NCBI36
NG_008866.1:g.144575A= , LRG_766:g.144575A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1032A=
ENST00000688602.1:c.2429A=
ENST00000689936.1:c.2401A=
ENST00000359596.8:c.14096A= MANE Select ENSP00000352608.2:p.Lys4699=
ENST00000355481.8:c.14081A= ENSP00000347667.3:p.Lys4694=
ENST00000359596.7:c.14096A= ENSP00000352608.2:p.Lys4699=
ENST00000360985.7:c.14078A= ENSP00000354254.4:p.Lys4693=
NM_000540.2:c.14096A= , LRG_766t1:c.14096A= NP_000531.2:p.Lys4699=
NM_001042723.1:c.14081A= NP_001036188.1:p.Lys4694=
XM_006723317.1:c.14078A= XP_006723380.1:p.Lys4693=
XM_006723319.1:c.14063A= XP_006723382.1:p.Lys4688=
XM_011527204.1:c.14093A= XP_011525506.1:p.Lys4698=
XM_011527205.1:c.14009A= XP_011525507.1:p.Lys4670=
XM_006723317.2:c.14078A= XP_006723380.1:p.Lys4693=
XM_006723319.2:c.14063A= XP_006723382.1:p.Lys4688=
XM_011527205.2:c.14009A= XP_011525507.1:p.Lys4670=
NM_000540.3:c.14096A= MANE Select NP_000531.2:p.Lys4699=
NM_001042723.2:c.14081A= NP_001036188.1:p.Lys4694=