Canonical Allele Identifier: CA405656368
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38535998G>C , CM000681.2:g.38535998G>C GRCh38
NC_000019.9:g.39026638G>C , CM000681.1:g.39026638G>C GRCh37
NC_000019.8:g.43718478G>C NCBI36
NG_008866.1:g.107299G>C , LRG_766:g.107299G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000359596.8:c.11518G>C MANE Select ENSP00000352608.2:p.Val3840Leu
ENST00000355481.8:c.11503G>C ENSP00000347667.3:p.Val3835Leu
ENST00000359596.7:c.11518G>C ENSP00000352608.2:p.Val3840Leu
ENST00000360985.7:c.11500G>C ENSP00000354254.4:p.Val3834Leu
ENST00000593322.1:c.217+606G>C
ENST00000594335.5:c.4905G>C
ENST00000596431.5:c.247G>C ENSP00000470848.1:p.Val83Leu
ENST00000601514.5:c.799G>C ENSP00000472497.1:p.Val267Leu
NM_000540.2:c.11518G>C , LRG_766t1:c.11518G>C NP_000531.2:p.Val3840Leu
NM_001042723.1:c.11503G>C NP_001036188.1:p.Val3835Leu
XM_006723317.1:c.11518G>C XP_006723380.1:p.Val3840Leu
XM_006723319.1:c.11503G>C XP_006723382.1:p.Val3835Leu
XM_011527204.1:c.11515G>C XP_011525506.1:p.Val3839Leu
XM_011527205.1:c.11518G>C XP_011525507.1:p.Val3840Leu
XM_006723317.2:c.11518G>C XP_006723380.1:p.Val3840Leu
XM_006723319.2:c.11503G>C XP_006723382.1:p.Val3835Leu
XM_011527205.2:c.11518G>C XP_011525507.1:p.Val3840Leu
NM_000540.3:c.11518G>C MANE Select NP_000531.2:p.Val3840Leu
NM_001042723.2:c.11503G>C NP_001036188.1:p.Val3835Leu