Canonical Allele Identifier: CA10651880

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329101
• ClinVar RCV Id: RCV000263466 ; RCV000265489 ; RCV000320643 ; RCV000375297 ; RCV003765905
• dbSNP Id: rs141542477
• MyVariant Identifiers: chr19:g.39018403C>A (hg19) ; chr19:g.38527763C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38527763C>A , CM000681.2:g.38527763C>A	GRCh38
NC_000019.9:g.39018403C>A , CM000681.1:g.39018403C>A	GRCh37
NC_000019.8:g.43710243C>A	NCBI36
NG_008866.1:g.99064C>A , LRG_766:g.99064C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.10742C>A	ENSP00000471601.2:n.10742C>A
ENST00000359596.8:c.10803C>A MANE Select	ENSP00000352608.2:p.Ala3601=
ENST00000355481.8:c.10788C>A	ENSP00000347667.3:p.Ala3596=
ENST00000359596.7:c.10803C>A	ENSP00000352608.2:p.Ala3601=
ENST00000360985.7:c.10785C>A	ENSP00000354254.4:p.Ala3595=
ENST00000594335.5:c.4190C>A
ENST00000599547.5:c.1610C>A
NM_000540.2:c.10803C>A , LRG_766t1:c.10803C>A	NP_000531.2:p.Ala3601=
NM_001042723.1:c.10788C>A	NP_001036188.1:p.Ala3596=
XM_006723317.1:c.10803C>A	XP_006723380.1:p.Ala3601=
XM_006723319.1:c.10788C>A	XP_006723382.1:p.Ala3596=
XM_011527204.1:c.10800C>A	XP_011525506.1:p.Ala3600=
XM_011527205.1:c.10803C>A	XP_011525507.1:p.Ala3601=
XM_006723317.2:c.10803C>A	XP_006723380.1:p.Ala3601=
XM_006723319.2:c.10788C>A	XP_006723382.1:p.Ala3596=
XM_011527205.2:c.10803C>A	XP_011525507.1:p.Ala3601=
XR_001753936.1:n.248G>T
NM_000540.3:c.10803C>A MANE Select	NP_000531.2:p.Ala3601=
NM_001042723.2:c.10788C>A	NP_001036188.1:p.Ala3596=