Canonical Allele Identifier: CA025011

Gene: RYR1

Linked Data

• ClinVar Variation Id: 42105
• ClinVar RCV Id: RCV000034932 ; RCV001363318
• dbSNP Id: rs367543057
• gnomAD v4: 19-38517651-C-A
• MyVariant Identifiers: chr19:g.39008291C>A (hg19) ; chr19:g.38517651C>A (hg38)
• PubMed: PMID:20301436 ; PMID:20583297

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517651C>A , CM000681.2:g.38517651C>A	GRCh38
NC_000019.9:g.39008291C>A , CM000681.1:g.39008291C>A	GRCh37
NC_000019.8:g.43700131C>A	NCBI36
NG_008866.1:g.88952C>A , LRG_766:g.88952C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9917C>A	ENSP00000471601.2:n.9917C>A
ENST00000359596.8:c.9978C>A MANE Select	ENSP00000352608.2:p.Asn3326Lys
ENST00000355481.8:c.9978C>A	ENSP00000347667.3:p.Asn3326Lys
ENST00000359596.7:c.9978C>A	ENSP00000352608.2:p.Asn3326Lys
ENST00000360985.7:c.9975C>A	ENSP00000354254.4:p.Asn3325Lys
ENST00000594335.5:c.3380C>A
ENST00000599547.5:c.785C>A
NM_000540.2:c.9978C>A , LRG_766t1:c.9978C>A	NP_000531.2:p.Asn3326Lys
NM_001042723.1:c.9978C>A	NP_001036188.1:p.Asn3326Lys
XM_006723317.1:c.9978C>A	XP_006723380.1:p.Asn3326Lys
XM_006723319.1:c.9978C>A	XP_006723382.1:p.Asn3326Lys
XM_011527204.1:c.9975C>A	XP_011525506.1:p.Asn3325Lys
XM_011527205.1:c.9978C>A	XP_011525507.1:p.Asn3326Lys
XM_006723317.2:c.9978C>A	XP_006723380.1:p.Asn3326Lys
XM_006723319.2:c.9978C>A	XP_006723382.1:p.Asn3326Lys
XM_011527205.2:c.9978C>A	XP_011525507.1:p.Asn3326Lys
NM_000540.3:c.9978C>A MANE Select	NP_000531.2:p.Asn3326Lys
NM_001042723.2:c.9978C>A	NP_001036188.1:p.Asn3326Lys