Canonical Allele Identifier: CA053108

Gene: RYR1

Linked Data

• ClinVar Variation Id: 224998
• ClinVar RCV Id: RCV000210710 ; RCV000521927 ; RCV000695241 ; RCV000763426 ; RCV000995628 ; RCV002259320
• dbSNP Id: rs111436401
• ExAC: 19:39013756 G / A
• gnomAD v2: 19-39013756-G-A
• gnomAD v4: 19-38523116-G-A
• MyVariant Identifiers: chr19:g.39013756G>A (hg19) ; chr19:g.38523116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38523116G>A , CM000681.2:g.38523116G>A	GRCh38
NC_000019.9:g.39013756G>A , CM000681.1:g.39013756G>A	GRCh37
NC_000019.8:g.43705596G>A	NCBI36
NG_008866.1:g.94417G>A , LRG_766:g.94417G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.10286+1G>A	ENSP00000471601.2:n.10286+1G>A
ENST00000359596.8:c.10347+1G>A MANE Select	ENSP00000352608.2:n.10347+1G>A
ENST00000355481.8:c.10347+1G>A	ENSP00000347667.3:n.10347+1G>A
ENST00000359596.7:c.10347+1G>A	ENSP00000352608.2:n.10347+1G>A
ENST00000360985.7:c.10344+1G>A	ENSP00000354254.4:n.10344+1G>A
ENST00000594335.5:c.3749+1G>A
ENST00000599547.5:c.1154+1G>A
ENST00000600337.1:n.49+1G>A
NM_000540.2:c.10347+1G>A , LRG_766t1:c.10347+1G>A	NP_000531.2:n.10347+1G>A
NM_001042723.1:c.10347+1G>A	NP_001036188.1:n.10347+1G>A
XM_006723317.1:c.10347+1G>A	XP_006723380.1:n.10347+1G>A
XM_006723319.1:c.10347+1G>A	XP_006723382.1:n.10347+1G>A
XM_011527204.1:c.10344+1G>A	XP_011525506.1:n.10344+1G>A
XM_011527205.1:c.10347+1G>A	XP_011525507.1:n.10347+1G>A
XM_006723317.2:c.10347+1G>A	XP_006723380.1:n.10347+1G>A
XM_006723319.2:c.10347+1G>A	XP_006723382.1:n.10347+1G>A
XM_011527205.2:c.10347+1G>A	XP_011525507.1:n.10347+1G>A
NM_000540.3:c.10347+1G>A MANE Select	NP_000531.2:n.10347+1G>A
NM_001042723.2:c.10347+1G>A	NP_001036188.1:n.10347+1G>A