Canonical Allele Identifier: CA16043555

Gene: RYR1

Linked Data

• ClinVar Variation Id: 374164
• ClinVar RCV Id: RCV000414976 ; RCV001198534 ; RCV001233334 ; RCV003133254
• dbSNP Id: rs1057518940
• MyVariant Identifiers: chr19:g.38990358G>A (hg19) ; chr19:g.38499718G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499718G>A , CM000681.2:g.38499718G>A	GRCh38
NC_000019.9:g.38990358G>A , CM000681.1:g.38990358G>A	GRCh37
NC_000019.8:g.43682198G>A	NCBI36
NG_008866.1:g.71019G>A , LRG_766:g.71019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7111G>A	ENSP00000471601.2:p.Glu2371Lys
ENST00000359596.8:c.7111G>A MANE Select	ENSP00000352608.2:p.Glu2371Lys
ENST00000355481.8:c.7111G>A	ENSP00000347667.3:p.Glu2371Lys
ENST00000359596.7:c.7111G>A	ENSP00000352608.2:p.Glu2371Lys
ENST00000360985.7:c.7108G>A	ENSP00000354254.4:p.Glu2370Lys
ENST00000594335.5:c.563G>A
NM_000540.2:c.7111G>A , LRG_766t1:c.7111G>A	NP_000531.2:p.Glu2371Lys
NM_001042723.1:c.7111G>A	NP_001036188.1:p.Glu2371Lys
XM_006723317.1:c.7111G>A	XP_006723380.1:p.Glu2371Lys
XM_006723319.1:c.7111G>A	XP_006723382.1:p.Glu2371Lys
XM_011527204.1:c.7108G>A	XP_011525506.1:p.Glu2370Lys
XM_011527205.1:c.7111G>A	XP_011525507.1:p.Glu2371Lys
XM_006723317.2:c.7111G>A	XP_006723380.1:p.Glu2371Lys
XM_006723319.2:c.7111G>A	XP_006723382.1:p.Glu2371Lys
XM_011527205.2:c.7111G>A	XP_011525507.1:p.Glu2371Lys
XR_001753735.1:n.7194G>A
NM_000540.3:c.7111G>A MANE Select	NP_000531.2:p.Glu2371Lys
NM_001042723.2:c.7111G>A	NP_001036188.1:p.Glu2371Lys