Canonical Allele Identifier: CA405684604
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577991T>C , CM000681.2:g.38577991T>C GRCh38
NC_000019.9:g.39068631T>C , CM000681.1:g.39068631T>C GRCh37
NC_000019.8:g.43760471T>C NCBI36
NG_008866.1:g.149292T>C , LRG_766:g.149292T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1182T>C
ENST00000688602.1:c.2579T>C
ENST00000689936.1:c.2551T>C
ENST00000359596.8:c.14246T>C MANE Select ENSP00000352608.2:p.Leu4749Pro
ENST00000355481.8:c.14231T>C ENSP00000347667.3:p.Leu4744Pro
ENST00000359596.7:c.14246T>C ENSP00000352608.2:p.Leu4749Pro
ENST00000360985.7:c.14228T>C ENSP00000354254.4:p.Leu4743Pro
NM_000540.2:c.14246T>C , LRG_766t1:c.14246T>C NP_000531.2:p.Leu4749Pro
NM_001042723.1:c.14231T>C NP_001036188.1:p.Leu4744Pro
XM_006723317.1:c.14228T>C XP_006723380.1:p.Leu4743Pro
XM_006723319.1:c.14213T>C XP_006723382.1:p.Leu4738Pro
XM_011527204.1:c.14243T>C XP_011525506.1:p.Leu4748Pro
XM_011527205.1:c.14159T>C XP_011525507.1:p.Leu4720Pro
XM_006723317.2:c.14228T>C XP_006723380.1:p.Leu4743Pro
XM_006723319.2:c.14213T>C XP_006723382.1:p.Leu4738Pro
XM_011527205.2:c.14159T>C XP_011525507.1:p.Leu4720Pro
NM_000540.3:c.14246T>C MANE Select NP_000531.2:p.Leu4749Pro
NM_001042723.2:c.14231T>C NP_001036188.1:p.Leu4744Pro