Canonical Allele Identifier: CA405687579
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580378G>A , CM000681.2:g.38580378G>A GRCh38
NC_000019.9:g.39071018G>A , CM000681.1:g.39071018G>A GRCh37
NC_000019.8:g.43762858G>A NCBI36
NG_008866.1:g.151679G>A , LRG_766:g.151679G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1456G>A
ENST00000688602.1:c.2853G>A
ENST00000689936.1:c.2825G>A
ENST00000359596.8:c.14520G>A MANE Select ENSP00000352608.2:p.Met4840Ile
ENST00000355481.8:c.14505G>A ENSP00000347667.3:p.Met4835Ile
ENST00000359596.7:c.14520G>A ENSP00000352608.2:p.Met4840Ile
ENST00000360985.7:c.14502G>A ENSP00000354254.4:p.Met4834Ile
NM_000540.2:c.14520G>A , LRG_766t1:c.14520G>A NP_000531.2:p.Met4840Ile
NM_001042723.1:c.14505G>A NP_001036188.1:p.Met4835Ile
XM_006723317.1:c.14502G>A XP_006723380.1:p.Met4834Ile
XM_006723319.1:c.14487G>A XP_006723382.1:p.Met4829Ile
XM_011527204.1:c.14517G>A XP_011525506.1:p.Met4839Ile
XM_011527205.1:c.14433G>A XP_011525507.1:p.Met4811Ile
XM_006723317.2:c.14502G>A XP_006723380.1:p.Met4834Ile
XM_006723319.2:c.14487G>A XP_006723382.1:p.Met4829Ile
XM_011527205.2:c.14433G>A XP_011525507.1:p.Met4811Ile
NM_000540.3:c.14520G>A MANE Select NP_000531.2:p.Met4840Ile
NM_001042723.2:c.14505G>A NP_001036188.1:p.Met4835Ile