Canonical Allele Identifier: CA10652415

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329013
• ClinVar RCV Id: RCV000304167 ; RCV000343582 ; RCV000361099 ; RCV000402330
• dbSNP Id: rs886054381
• COSMIC: COSM711617
• MyVariant Identifiers: chr19:g.38964024G>T (hg19) ; chr19:g.38473384G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38473384G>T , CM000681.2:g.38473384G>T	GRCh38
NC_000019.9:g.38964024G>T , CM000681.1:g.38964024G>T	GRCh37
NC_000019.8:g.43655864G>T	NCBI36
NG_008866.1:g.44685G>T , LRG_766:g.44685G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.3773G>T	ENSP00000471601.2:p.Arg1258Leu
ENST00000359596.8:c.3773G>T MANE Select	ENSP00000352608.2:p.Arg1258Leu
ENST00000355481.8:c.3773G>T	ENSP00000347667.3:p.Arg1258Leu
ENST00000359596.7:c.3773G>T	ENSP00000352608.2:p.Arg1258Leu
ENST00000360985.7:c.3773G>T	ENSP00000354254.4:p.Arg1258Leu
NM_000540.2:c.3773G>T , LRG_766t1:c.3773G>T	NP_000531.2:p.Arg1258Leu
NM_001042723.1:c.3773G>T	NP_001036188.1:p.Arg1258Leu
XM_006723317.1:c.3773G>T	XP_006723380.1:p.Arg1258Leu
XM_006723319.1:c.3773G>T	XP_006723382.1:p.Arg1258Leu
XM_011527204.1:c.3770G>T	XP_011525506.1:p.Arg1257Leu
XM_011527205.1:c.3773G>T	XP_011525507.1:p.Arg1258Leu
XM_006723317.2:c.3773G>T	XP_006723380.1:p.Arg1258Leu
XM_006723319.2:c.3773G>T	XP_006723382.1:p.Arg1258Leu
XM_011527205.2:c.3773G>T	XP_011525507.1:p.Arg1258Leu
XR_001753735.1:n.3856G>T
NM_000540.3:c.3773G>T MANE Select	NP_000531.2:p.Arg1258Leu
NM_001042723.2:c.3773G>T	NP_001036188.1:p.Arg1258Leu