Canonical Allele Identifier: CA066143

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329029
• ClinVar RCV Id: RCV000270553 ; RCV000306888 ; RCV000364887 ; RCV000369799 ; RCV001224473
• dbSNP Id: rs767928113
• ExAC: 19:38969101 T / C
• gnomAD v2: 19-38969101-T-C
• gnomAD v3: 19-38478461-T-C
• gnomAD v4: 19-38478461-T-C
• MyVariant Identifiers: chr19:g.38969101T>C (hg19) ; chr19:g.38478461T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38478461T>C , CM000681.2:g.38478461T>C	GRCh38
NC_000019.9:g.38969101T>C , CM000681.1:g.38969101T>C	GRCh37
NC_000019.8:g.43660941T>C	NCBI36
NG_008866.1:g.49762T>C , LRG_766:g.49762T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.4481T>C	ENSP00000471601.2:p.Val1494Ala
ENST00000359596.8:c.4481T>C MANE Select	ENSP00000352608.2:p.Val1494Ala
ENST00000355481.8:c.4481T>C	ENSP00000347667.3:p.Val1494Ala
ENST00000359596.7:c.4481T>C	ENSP00000352608.2:p.Val1494Ala
ENST00000360985.7:c.4478T>C	ENSP00000354254.4:p.Val1493Ala
NM_000540.2:c.4481T>C , LRG_766t1:c.4481T>C	NP_000531.2:p.Val1494Ala
NM_001042723.1:c.4481T>C	NP_001036188.1:p.Val1494Ala
XM_006723317.1:c.4481T>C	XP_006723380.1:p.Val1494Ala
XM_006723319.1:c.4481T>C	XP_006723382.1:p.Val1494Ala
XM_011527204.1:c.4478T>C	XP_011525506.1:p.Val1493Ala
XM_011527205.1:c.4481T>C	XP_011525507.1:p.Val1494Ala
XM_006723317.2:c.4481T>C	XP_006723380.1:p.Val1494Ala
XM_006723319.2:c.4481T>C	XP_006723382.1:p.Val1494Ala
XM_011527205.2:c.4481T>C	XP_011525507.1:p.Val1494Ala
XR_001753735.1:n.4564T>C
NM_000540.3:c.4481T>C MANE Select	NP_000531.2:p.Val1494Ala
NM_001042723.2:c.4481T>C	NP_001036188.1:p.Val1494Ala