Canonical Allele Identifier: CA405662842

Gene: RYR1

Linked Data

• ClinVar Variation Id: 650932
• ClinVar RCV Id: RCV000806183 ; RCV000853331
• dbSNP Id: rs1600989183
• COSMIC: COSM4723243
• MyVariant Identifiers: chr19:g.39034450C>T (hg19) ; chr19:g.38543810C>T (hg38)
• ERepo: CA405662842/MONDO:0007783/012

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543810C>T , CM000681.2:g.38543810C>T	GRCh38
NC_000019.9:g.39034450C>T , CM000681.1:g.39034450C>T	GRCh37
NC_000019.8:g.43726290C>T	NCBI36
NG_008866.1:g.115111C>T , LRG_766:g.115111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.357C>T
ENST00000689936.1:c.339C>T
ENST00000359596.8:c.11947C>T MANE Select	ENSP00000352608.2:p.Arg3983Cys
ENST00000355481.8:c.11932C>T	ENSP00000347667.3:p.Arg3978Cys
ENST00000359596.7:c.11947C>T	ENSP00000352608.2:p.Arg3983Cys
ENST00000360985.7:c.11929C>T	ENSP00000354254.4:p.Arg3977Cys
ENST00000593322.1:c.556C>T
ENST00000594335.5:c.5316C>T
NM_000540.2:c.11947C>T , LRG_766t1:c.11947C>T	NP_000531.2:p.Arg3983Cys
NM_001042723.1:c.11932C>T	NP_001036188.1:p.Arg3978Cys
XM_006723317.1:c.11929C>T	XP_006723380.1:p.Arg3977Cys
XM_006723319.1:c.11914C>T	XP_006723382.1:p.Arg3972Cys
XM_011527204.1:c.11944C>T	XP_011525506.1:p.Arg3982Cys
XM_011527205.1:c.11947C>T	XP_011525507.1:p.Arg3983Cys
XM_006723317.2:c.11929C>T	XP_006723380.1:p.Arg3977Cys
XM_006723319.2:c.11914C>T	XP_006723382.1:p.Arg3972Cys
XM_011527205.2:c.11947C>T	XP_011525507.1:p.Arg3983Cys
NM_000540.3:c.11947C>T MANE Select	NP_000531.2:p.Arg3983Cys
NM_001042723.2:c.11932C>T	NP_001036188.1:p.Arg3978Cys