Canonical Allele Identifier: CA024078

Gene: RYR1

Linked Data

• ClinVar Variation Id: 12992
• ClinVar RCV Id: RCV000013864 ; RCV000119487 ; RCV001851836 ; RCV001824568
• dbSNP Id: rs118192166
• MyVariant Identifiers: chr19:g.39062821A>G (hg19) ; chr19:g.38572181A>G (hg38)
• PubMed: PMID:11113224

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572181A>G , CM000681.2:g.38572181A>G	GRCh38
NC_000019.9:g.39062821A>G , CM000681.1:g.39062821A>G	GRCh37
NC_000019.8:g.43754661A>G	NCBI36
NG_008866.1:g.143482A>G , LRG_766:g.143482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.845A>G
ENST00000688602.1:c.2242A>G
ENST00000689936.1:c.2214A>G
ENST00000359596.8:c.13909A>G MANE Select	ENSP00000352608.2:p.Thr4637Ala
ENST00000355481.8:c.13894A>G	ENSP00000347667.3:p.Thr4632Ala
ENST00000359596.7:c.13909A>G	ENSP00000352608.2:p.Thr4637Ala
ENST00000360985.7:c.13891A>G	ENSP00000354254.4:p.Thr4631Ala
ENST00000593677.1:c.369A>G
NM_000540.2:c.13909A>G , LRG_766t1:c.13909A>G	NP_000531.2:p.Thr4637Ala
NM_001042723.1:c.13894A>G	NP_001036188.1:p.Thr4632Ala
XM_006723317.1:c.13891A>G	XP_006723380.1:p.Thr4631Ala
XM_006723319.1:c.13876A>G	XP_006723382.1:p.Thr4626Ala
XM_011527204.1:c.13906A>G	XP_011525506.1:p.Thr4636Ala
XM_011527205.1:c.13822A>G	XP_011525507.1:p.Thr4608Ala
XM_006723317.2:c.13891A>G	XP_006723380.1:p.Thr4631Ala
XM_006723319.2:c.13876A>G	XP_006723382.1:p.Thr4626Ala
XM_011527205.2:c.13822A>G	XP_011525507.1:p.Thr4608Ala
NM_000540.3:c.13909A>G MANE Select	NP_000531.2:p.Thr4637Ala
NM_001042723.2:c.13894A>G	NP_001036188.1:p.Thr4632Ala