Canonical Allele Identifier: CA074310

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1455334
• ClinVar RCV Id: RCV001942316 ; RCV003490973
• dbSNP Id: rs749656679
• ExAC: 19:39008211 G / GC
• gnomAD v2: 19-39008211-G-GC
• gnomAD v3: 19-38517571-G-GC
• gnomAD v4: 19-38517571-G-GC
• COSMIC: COSM1393416
• MyVariant Identifiers: chr19:g.39008212_39008213insC (hg19) ; chr19:g.39008211_39008212insC (hg19) ; chr19:g.38517571_38517572insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517578dup , CM000681.2:g.38517578dup	GRCh38
NC_000019.9:g.39008218dup , CM000681.1:g.39008218dup	GRCh37
NC_000019.8:g.43700058dup	NCBI36
NG_008866.1:g.88879dup , LRG_766:g.88879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9844dup	ENSP00000471601.2:n.9844dup
ENST00000359596.8:c.9905dup MANE Select	ENSP00000352608.2:p.Pro3303ThrfsTer8
ENST00000355481.8:c.9905dup	ENSP00000347667.3:p.Pro3303ThrfsTer8
ENST00000359596.7:c.9905dup	ENSP00000352608.2:p.Pro3303ThrfsTer8
ENST00000360985.7:c.9902dup	ENSP00000354254.4:p.Pro3302ThrfsTer8
ENST00000594335.5:c.3307dup
ENST00000599547.5:c.712dup
NM_000540.2:c.9905dup , LRG_766t1:c.9905dup	NP_000531.2:p.Pro3303ThrfsTer8
NM_001042723.1:c.9905dup	NP_001036188.1:p.Pro3303ThrfsTer8
XM_006723317.1:c.9905dup	XP_006723380.1:p.Pro3303ThrfsTer8
XM_006723319.1:c.9905dup	XP_006723382.1:p.Pro3303ThrfsTer8
XM_011527204.1:c.9902dup	XP_011525506.1:p.Pro3302ThrfsTer8
XM_011527205.1:c.9905dup	XP_011525507.1:p.Pro3303ThrfsTer8
XM_006723317.2:c.9905dup	XP_006723380.1:p.Pro3303ThrfsTer8
XM_006723319.2:c.9905dup	XP_006723382.1:p.Pro3303ThrfsTer8
XM_011527205.2:c.9905dup	XP_011525507.1:p.Pro3303ThrfsTer8
NM_000540.3:c.9905dup MANE Select	NP_000531.2:p.Pro3303ThrfsTer8
NM_001042723.2:c.9905dup	NP_001036188.1:p.Pro3303ThrfsTer8