Canonical Allele Identifier: CA024246

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65997
• ClinVar RCV Id: RCV000056244 ; RCV000119558
• dbSNP Id: rs118192155
• MyVariant Identifiers: chr19:g.39075695C>A (hg19) ; chr19:g.38585055C>A (hg38)
• PubMed: PMID:16621918 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585055C>A , CM000681.2:g.38585055C>A	GRCh38
NC_000019.9:g.39075695C>A , CM000681.1:g.39075695C>A	GRCh37
NC_000019.8:g.43767535C>A	NCBI36
NG_008866.1:g.156356C>A , LRG_766:g.156356C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1695C>A
ENST00000688602.1:c.3092C>A
ENST00000689936.1:c.3064C>A
ENST00000692547.1:n.152C>A
ENST00000359596.8:c.14759C>A MANE Select	ENSP00000352608.2:p.Thr4920Asn
ENST00000355481.8:c.14744C>A	ENSP00000347667.3:p.Thr4915Asn
ENST00000359596.7:c.14759C>A	ENSP00000352608.2:p.Thr4920Asn
ENST00000360985.7:c.14741C>A	ENSP00000354254.4:p.Thr4914Asn
NM_000540.2:c.14759C>A , LRG_766t1:c.14759C>A	NP_000531.2:p.Thr4920Asn
NM_001042723.1:c.14744C>A	NP_001036188.1:p.Thr4915Asn
XM_006723317.1:c.14741C>A	XP_006723380.1:p.Thr4914Asn
XM_006723319.1:c.14726C>A	XP_006723382.1:p.Thr4909Asn
XM_011527204.1:c.14756C>A	XP_011525506.1:p.Thr4919Asn
XM_011527205.1:c.14672C>A	XP_011525507.1:p.Thr4891Asn
XM_006723317.2:c.14741C>A	XP_006723380.1:p.Thr4914Asn
XM_006723319.2:c.14726C>A	XP_006723382.1:p.Thr4909Asn
XM_011527205.2:c.14672C>A	XP_011525507.1:p.Thr4891Asn
NM_000540.3:c.14759C>A MANE Select	NP_000531.2:p.Thr4920Asn
NM_001042723.2:c.14744C>A	NP_001036188.1:p.Thr4915Asn