Canonical Allele Identifier: CA074299

Gene: RYR1

Linked Data

• ClinVar Variation Id: 430542
• ClinVar RCV Id: RCV000493499 ; RCV001467909 ; RCV004003488
• dbSNP Id: rs372203483
• ExAC: 19:39008208 G / A
• gnomAD v2: 19-39008208-G-A
• gnomAD v3: 19-38517568-G-A
• gnomAD v4: 19-38517568-G-A
• COSMIC: COSM3771046
• MyVariant Identifiers: chr19:g.39008208G>A (hg19) ; chr19:g.38517568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517568G>A , CM000681.2:g.38517568G>A	GRCh38
NC_000019.9:g.39008208G>A , CM000681.1:g.39008208G>A	GRCh37
NC_000019.8:g.43700048G>A	NCBI36
NG_008866.1:g.88869G>A , LRG_766:g.88869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9834G>A	ENSP00000471601.2:n.9834G>A
ENST00000359596.8:c.9895G>A MANE Select	ENSP00000352608.2:p.Gly3299Ser
ENST00000355481.8:c.9895G>A	ENSP00000347667.3:p.Gly3299Ser
ENST00000359596.7:c.9895G>A	ENSP00000352608.2:p.Gly3299Ser
ENST00000360985.7:c.9892G>A	ENSP00000354254.4:p.Gly3298Ser
ENST00000594335.5:c.3297G>A
ENST00000599547.5:c.702G>A
NM_000540.2:c.9895G>A , LRG_766t1:c.9895G>A	NP_000531.2:p.Gly3299Ser
NM_001042723.1:c.9895G>A	NP_001036188.1:p.Gly3299Ser
XM_006723317.1:c.9895G>A	XP_006723380.1:p.Gly3299Ser
XM_006723319.1:c.9895G>A	XP_006723382.1:p.Gly3299Ser
XM_011527204.1:c.9892G>A	XP_011525506.1:p.Gly3298Ser
XM_011527205.1:c.9895G>A	XP_011525507.1:p.Gly3299Ser
XM_006723317.2:c.9895G>A	XP_006723380.1:p.Gly3299Ser
XM_006723319.2:c.9895G>A	XP_006723382.1:p.Gly3299Ser
XM_011527205.2:c.9895G>A	XP_011525507.1:p.Gly3299Ser
NM_000540.3:c.9895G>A MANE Select	NP_000531.2:p.Gly3299Ser
NM_001042723.2:c.9895G>A	NP_001036188.1:p.Gly3299Ser