Canonical Allele Identifier: CA9415935

Gene: RYR1

Linked Data

• ClinVar Variation Id: 256415
• ClinVar RCV Id: RCV000249567
• dbSNP Id: rs551474037
• ExAC: 19:39034389 C / CA
• gnomAD v2: 19-39034389-C-CA
• gnomAD v3: 19-38543749-C-CA
• gnomAD v4: 19-38543749-C-CA
• MyVariant Identifiers: chr19:g.39034390dupA (hg19) ; chr19:g.39034389_39034390insA (hg19) ; chr19:g.38543750dupA (hg38) ; chr19:g.38543749_38543750insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543750dup , CM000681.2:g.38543750dup	GRCh38
NC_000019.9:g.39034390dup , CM000681.1:g.39034390dup	GRCh37
NC_000019.8:g.43726230dup	NCBI36
NG_008866.1:g.115051dup , LRG_766:g.115051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.318-21dup
ENST00000689936.1:c.300-21dup
ENST00000359596.8:c.11908-21dup MANE Select	ENSP00000352608.2:n.11908-21dup
ENST00000355481.8:c.11893-21dup	ENSP00000347667.3:n.11893-21dup
ENST00000359596.7:c.11908-21dup	ENSP00000352608.2:n.11908-21dup
ENST00000360985.7:c.11890-21dup	ENSP00000354254.4:n.11890-21dup
ENST00000593322.1:c.517-21dup
ENST00000594335.5:c.5277-21dup
NM_000540.2:c.11908-21dup , LRG_766t1:c.11908-21dup	NP_000531.2:n.11908-21dup
NM_001042723.1:c.11893-21dup	NP_001036188.1:n.11893-21dup
XM_006723317.1:c.11890-21dup	XP_006723380.1:n.11890-21dup
XM_006723319.1:c.11875-21dup	XP_006723382.1:n.11875-21dup
XM_011527204.1:c.11905-21dup	XP_011525506.1:n.11905-21dup
XM_011527205.1:c.11908-21dup	XP_011525507.1:n.11908-21dup
XM_006723317.2:c.11890-21dup	XP_006723380.1:n.11890-21dup
XM_006723319.2:c.11875-21dup	XP_006723382.1:n.11875-21dup
XM_011527205.2:c.11908-21dup	XP_011525507.1:n.11908-21dup
NM_000540.3:c.11908-21dup MANE Select	NP_000531.2:n.11908-21dup
NM_001042723.2:c.11893-21dup	NP_001036188.1:n.11893-21dup