Canonical Allele Identifier: CA074340

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2584344
• ClinVar RCV Id: RCV003335792
• dbSNP Id: rs746935915
• ExAC: 19:39008223 T / C
• MyVariant Identifiers: chr19:g.39008223T>C (hg19) ; chr19:g.38517583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517583T>C , CM000681.2:g.38517583T>C	GRCh38
NC_000019.9:g.39008223T>C , CM000681.1:g.39008223T>C	GRCh37
NC_000019.8:g.43700063T>C	NCBI36
NG_008866.1:g.88884T>C , LRG_766:g.88884T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9849T>C	ENSP00000471601.2:n.9849T>C
ENST00000359596.8:c.9910T>C MANE Select	ENSP00000352608.2:p.Cys3304Arg
ENST00000355481.8:c.9910T>C	ENSP00000347667.3:p.Cys3304Arg
ENST00000359596.7:c.9910T>C	ENSP00000352608.2:p.Cys3304Arg
ENST00000360985.7:c.9907T>C	ENSP00000354254.4:p.Cys3303Arg
ENST00000594335.5:c.3312T>C
ENST00000599547.5:c.717T>C
NM_000540.2:c.9910T>C , LRG_766t1:c.9910T>C	NP_000531.2:p.Cys3304Arg
NM_001042723.1:c.9910T>C	NP_001036188.1:p.Cys3304Arg
XM_006723317.1:c.9910T>C	XP_006723380.1:p.Cys3304Arg
XM_006723319.1:c.9910T>C	XP_006723382.1:p.Cys3304Arg
XM_011527204.1:c.9907T>C	XP_011525506.1:p.Cys3303Arg
XM_011527205.1:c.9910T>C	XP_011525507.1:p.Cys3304Arg
XM_006723317.2:c.9910T>C	XP_006723380.1:p.Cys3304Arg
XM_006723319.2:c.9910T>C	XP_006723382.1:p.Cys3304Arg
XM_011527205.2:c.9910T>C	XP_011525507.1:p.Cys3304Arg
NM_000540.3:c.9910T>C MANE Select	NP_000531.2:p.Cys3304Arg
NM_001042723.2:c.9910T>C	NP_001036188.1:p.Cys3304Arg