Canonical Allele Identifier: CA405691722

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39008047T>A (hg19) ; chr19:g.38517407T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517407T>A , CM000681.2:g.38517407T>A	GRCh38
NC_000019.9:g.39008047T>A , CM000681.1:g.39008047T>A	GRCh37
NC_000019.8:g.43699887T>A	NCBI36
NG_008866.1:g.88708T>A , LRG_766:g.88708T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.9673T>A	ENSP00000471601.2:n.9673T>A
ENST00000359596.8:c.9734T>A MANE Select	ENSP00000352608.2:p.Val3245Glu
ENST00000355481.8:c.9734T>A	ENSP00000347667.3:p.Val3245Glu
ENST00000359596.7:c.9734T>A	ENSP00000352608.2:p.Val3245Glu
ENST00000360985.7:c.9731T>A	ENSP00000354254.4:p.Val3244Glu
ENST00000594335.5:c.3136T>A
ENST00000599547.5:c.541T>A
NM_000540.2:c.9734T>A , LRG_766t1:c.9734T>A	NP_000531.2:p.Val3245Glu
NM_001042723.1:c.9734T>A	NP_001036188.1:p.Val3245Glu
XM_006723317.1:c.9734T>A	XP_006723380.1:p.Val3245Glu
XM_006723319.1:c.9734T>A	XP_006723382.1:p.Val3245Glu
XM_011527204.1:c.9731T>A	XP_011525506.1:p.Val3244Glu
XM_011527205.1:c.9734T>A	XP_011525507.1:p.Val3245Glu
XM_006723317.2:c.9734T>A	XP_006723380.1:p.Val3245Glu
XM_006723319.2:c.9734T>A	XP_006723382.1:p.Val3245Glu
XM_011527205.2:c.9734T>A	XP_011525507.1:p.Val3245Glu
XR_001753735.1:n.9767T>A
NM_000540.3:c.9734T>A MANE Select	NP_000531.2:p.Val3245Glu
NM_001042723.2:c.9734T>A	NP_001036188.1:p.Val3245Glu