Canonical Allele Identifier: CA057930
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2081053
dbSNP Id: rs773430054

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38543795A>G , CM000681.2:g.38543795A>G GRCh38
NC_000019.9:g.39034435A>G , CM000681.1:g.39034435A>G GRCh37
NC_000019.8:g.43726275A>G NCBI36
NG_008866.1:g.115096A>G , LRG_766:g.115096A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.342A>G
ENST00000689936.1:c.324A>G
ENST00000359596.8:c.11932A>G MANE Select ENSP00000352608.2:p.Ser3978Gly
ENST00000355481.8:c.11917A>G ENSP00000347667.3:p.Ser3973Gly
ENST00000359596.7:c.11932A>G ENSP00000352608.2:p.Ser3978Gly
ENST00000360985.7:c.11914A>G ENSP00000354254.4:p.Ser3972Gly
ENST00000593322.1:c.541A>G
ENST00000594335.5:c.5301A>G
NM_000540.2:c.11932A>G , LRG_766t1:c.11932A>G NP_000531.2:p.Ser3978Gly
NM_001042723.1:c.11917A>G NP_001036188.1:p.Ser3973Gly
XM_006723317.1:c.11914A>G XP_006723380.1:p.Ser3972Gly
XM_006723319.1:c.11899A>G XP_006723382.1:p.Ser3967Gly
XM_011527204.1:c.11929A>G XP_011525506.1:p.Ser3977Gly
XM_011527205.1:c.11932A>G XP_011525507.1:p.Ser3978Gly
XM_006723317.2:c.11914A>G XP_006723380.1:p.Ser3972Gly
XM_006723319.2:c.11899A>G XP_006723382.1:p.Ser3967Gly
XM_011527205.2:c.11932A>G XP_011525507.1:p.Ser3978Gly
NM_000540.3:c.11932A>G MANE Select NP_000531.2:p.Ser3978Gly
NM_001042723.2:c.11917A>G NP_001036188.1:p.Ser3973Gly