Canonical Allele Identifier: CA2335084583
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38564986T= , CM000681.2:g.38564986T= GRCh38
NC_000019.9:g.39055626T= , CM000681.1:g.39055626T= GRCh37
NC_000019.8:g.43747466T= NCBI36
NG_008866.1:g.136287T= , LRG_766:g.136287T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1062T=
ENST00000689936.1:c.1044T=
ENST00000359596.8:c.12652T= MANE Select ENSP00000352608.2:p.Phe4218=
ENST00000355481.8:c.12637T= ENSP00000347667.3:p.Phe4213=
ENST00000359596.7:c.12652T= ENSP00000352608.2:p.Phe4218=
ENST00000360985.7:c.12634T= ENSP00000354254.4:p.Phe4212=
ENST00000594335.5:c.6021T=
NM_000540.2:c.12652T= , LRG_766t1:c.12652T= NP_000531.2:p.Phe4218=
NM_001042723.1:c.12637T= NP_001036188.1:p.Phe4213=
XM_006723317.1:c.12634T= XP_006723380.1:p.Phe4212=
XM_006723319.1:c.12619T= XP_006723382.1:p.Phe4207=
XM_011527204.1:c.12649T= XP_011525506.1:p.Phe4217=
XM_011527205.1:c.12652T= XP_011525507.1:p.Phe4218=
XM_006723317.2:c.12634T= XP_006723380.1:p.Phe4212=
XM_006723319.2:c.12619T= XP_006723382.1:p.Phe4207=
XM_011527205.2:c.12652T= XP_011525507.1:p.Phe4218=
NM_000540.3:c.12652T= MANE Select NP_000531.2:p.Phe4218=
NM_001042723.2:c.12637T= NP_001036188.1:p.Phe4213=