Canonical Allele Identifier: CA10648661

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329123
• ClinVar RCV Id: RCV000266003 ; RCV000268984 ; RCV000329196 ; RCV000383810
• dbSNP Id: rs886054406
• MyVariant Identifiers: chr19:g.39056102G>A (hg19) ; chr19:g.38565462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565462G>A , CM000681.2:g.38565462G>A	GRCh38
NC_000019.9:g.39056102G>A , CM000681.1:g.39056102G>A	GRCh37
NC_000019.8:g.43747942G>A	NCBI36
NG_008866.1:g.136763G>A , LRG_766:g.136763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.64G>A
ENST00000688602.1:c.1538G>A
ENST00000689936.1:c.1520G>A
ENST00000359596.8:c.13128G>A MANE Select	ENSP00000352608.2:p.Val4376=
ENST00000355481.8:c.13113G>A	ENSP00000347667.3:p.Val4371=
ENST00000359596.7:c.13128G>A	ENSP00000352608.2:p.Val4376=
ENST00000360985.7:c.13110G>A	ENSP00000354254.4:p.Val4370=
NM_000540.2:c.13128G>A , LRG_766t1:c.13128G>A	NP_000531.2:p.Val4376=
NM_001042723.1:c.13113G>A	NP_001036188.1:p.Val4371=
XM_006723317.1:c.13110G>A	XP_006723380.1:p.Val4370=
XM_006723319.1:c.13095G>A	XP_006723382.1:p.Val4365=
XM_011527204.1:c.13125G>A	XP_011525506.1:p.Val4375=
XM_011527205.1:c.13128G>A	XP_011525507.1:p.Val4376=
XM_006723317.2:c.13110G>A	XP_006723380.1:p.Val4370=
XM_006723319.2:c.13095G>A	XP_006723382.1:p.Val4365=
XM_011527205.2:c.13128G>A	XP_011525507.1:p.Val4376=
NM_000540.3:c.13128G>A MANE Select	NP_000531.2:p.Val4376=
NM_001042723.2:c.13113G>A	NP_001036188.1:p.Val4371=