Canonical Allele Identifier: CA405662925
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38543843G>T , CM000681.2:g.38543843G>T GRCh38
NC_000019.9:g.39034483G>T , CM000681.1:g.39034483G>T GRCh37
NC_000019.8:g.43726323G>T NCBI36
NG_008866.1:g.115144G>T , LRG_766:g.115144G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.390G>T
ENST00000689936.1:c.372G>T
ENST00000359596.8:c.11980G>T MANE Select ENSP00000352608.2:p.Val3994Leu
ENST00000355481.8:c.11965G>T ENSP00000347667.3:p.Val3989Leu
ENST00000359596.7:c.11980G>T ENSP00000352608.2:p.Val3994Leu
ENST00000360985.7:c.11962G>T ENSP00000354254.4:p.Val3988Leu
ENST00000593322.1:c.589G>T
ENST00000594335.5:c.5349G>T
NM_000540.2:c.11980G>T , LRG_766t1:c.11980G>T NP_000531.2:p.Val3994Leu
NM_001042723.1:c.11965G>T NP_001036188.1:p.Val3989Leu
XM_006723317.1:c.11962G>T XP_006723380.1:p.Val3988Leu
XM_006723319.1:c.11947G>T XP_006723382.1:p.Val3983Leu
XM_011527204.1:c.11977G>T XP_011525506.1:p.Val3993Leu
XM_011527205.1:c.11980G>T XP_011525507.1:p.Val3994Leu
XM_006723317.2:c.11962G>T XP_006723380.1:p.Val3988Leu
XM_006723319.2:c.11947G>T XP_006723382.1:p.Val3983Leu
XM_011527205.2:c.11980G>T XP_011525507.1:p.Val3994Leu
NM_000540.3:c.11980G>T MANE Select NP_000531.2:p.Val3994Leu
NM_001042723.2:c.11965G>T NP_001036188.1:p.Val3989Leu