Canonical Allele Identifier: CA024031

Gene: RYR1

Linked Data

• ClinVar Variation Id: 199215
• ClinVar RCV Id: RCV000180735 ; RCV000543194 ; RCV002503701
• dbSNP Id: rs794727985
• gnomAD v2: 19-39056018-G-A
• gnomAD v3: 19-38565378-G-A
• gnomAD v4: 19-38565378-G-A
• MyVariant Identifiers: chr19:g.39056018G>A (hg19) ; chr19:g.38565378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565378G>A , CM000681.2:g.38565378G>A	GRCh38
NC_000019.9:g.39056018G>A , CM000681.1:g.39056018G>A	GRCh37
NC_000019.8:g.43747858G>A	NCBI36
NG_008866.1:g.136679G>A , LRG_766:g.136679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1454G>A
ENST00000689936.1:c.1436G>A
ENST00000359596.8:c.13044G>A MANE Select	ENSP00000352608.2:p.Ala4348=
ENST00000355481.8:c.13029G>A	ENSP00000347667.3:p.Ala4343=
ENST00000359596.7:c.13044G>A	ENSP00000352608.2:p.Ala4348=
ENST00000360985.7:c.13026G>A	ENSP00000354254.4:p.Ala4342=
NM_000540.2:c.13044G>A , LRG_766t1:c.13044G>A	NP_000531.2:p.Ala4348=
NM_001042723.1:c.13029G>A	NP_001036188.1:p.Ala4343=
XM_006723317.1:c.13026G>A	XP_006723380.1:p.Ala4342=
XM_006723319.1:c.13011G>A	XP_006723382.1:p.Ala4337=
XM_011527204.1:c.13041G>A	XP_011525506.1:p.Ala4347=
XM_011527205.1:c.13044G>A	XP_011525507.1:p.Ala4348=
XM_006723317.2:c.13026G>A	XP_006723380.1:p.Ala4342=
XM_006723319.2:c.13011G>A	XP_006723382.1:p.Ala4337=
XM_011527205.2:c.13044G>A	XP_011525507.1:p.Ala4348=
NM_000540.3:c.13044G>A MANE Select	NP_000531.2:p.Ala4348=
NM_001042723.2:c.13029G>A	NP_001036188.1:p.Ala4343=