Canonical Allele Identifier: CA507243940

Gene: RYR1

Linked Data

• ClinVar Variation Id: 796427
• ClinVar RCV Id: RCV001456070 ; RCV004004393
• dbSNP Id: rs1487018944
• gnomAD v2: 19-38993338-C-A
• gnomAD v4: 19-38502698-C-A
• MyVariant Identifiers: chr19:g.38993338C>A (hg19) ; chr19:g.38502698C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502698C>A , CM000681.2:g.38502698C>A	GRCh38
NC_000019.9:g.38993338C>A , CM000681.1:g.38993338C>A	GRCh37
NC_000019.8:g.43685178C>A	NCBI36
NG_008866.1:g.73999C>A , LRG_766:g.73999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7806C>A	ENSP00000471601.2:p.Val2602=
ENST00000359596.8:c.7806C>A MANE Select	ENSP00000352608.2:p.Val2602=
ENST00000355481.8:c.7806C>A	ENSP00000347667.3:p.Val2602=
ENST00000359596.7:c.7806C>A	ENSP00000352608.2:p.Val2602=
ENST00000360985.7:c.7803C>A	ENSP00000354254.4:p.Val2601=
ENST00000594335.5:c.1258C>A
NM_000540.2:c.7806C>A , LRG_766t1:c.7806C>A	NP_000531.2:p.Val2602=
NM_001042723.1:c.7806C>A	NP_001036188.1:p.Val2602=
XM_006723317.1:c.7806C>A	XP_006723380.1:p.Val2602=
XM_006723319.1:c.7806C>A	XP_006723382.1:p.Val2602=
XM_011527204.1:c.7803C>A	XP_011525506.1:p.Val2601=
XM_011527205.1:c.7806C>A	XP_011525507.1:p.Val2602=
XM_006723317.2:c.7806C>A	XP_006723380.1:p.Val2602=
XM_006723319.2:c.7806C>A	XP_006723382.1:p.Val2602=
XM_011527205.2:c.7806C>A	XP_011525507.1:p.Val2602=
XR_001753735.1:n.7889C>A
NM_000540.3:c.7806C>A MANE Select	NP_000531.2:p.Val2602=
NM_001042723.2:c.7806C>A	NP_001036188.1:p.Val2602=