Canonical Allele Identifier: CA069019

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329057
• ClinVar RCV Id: RCV000295398 ; RCV000350300 ; RCV000389566 ; RCV000386259 ; RCV003757170
• dbSNP Id: rs369342449
• ExAC: 19:38990264 C / G
• gnomAD v2: 19-38990264-C-G
• gnomAD v4: 19-38499624-C-G
• MyVariant Identifiers: chr19:g.38990264C>G (hg19) ; chr19:g.38499624C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38499624C>G , CM000681.2:g.38499624C>G	GRCh38
NC_000019.9:g.38990264C>G , CM000681.1:g.38990264C>G	GRCh37
NC_000019.8:g.43682104C>G	NCBI36
NG_008866.1:g.70925C>G , LRG_766:g.70925C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7028-11C>G	ENSP00000471601.2:n.7028-11C>G
ENST00000359596.8:c.7028-11C>G MANE Select	ENSP00000352608.2:n.7028-11C>G
ENST00000355481.8:c.7028-11C>G	ENSP00000347667.3:n.7028-11C>G
ENST00000359596.7:c.7028-11C>G	ENSP00000352608.2:n.7028-11C>G
ENST00000360985.7:c.7025-11C>G	ENSP00000354254.4:n.7025-11C>G
ENST00000594335.5:c.480-11C>G
NM_000540.2:c.7028-11C>G , LRG_766t1:c.7028-11C>G	NP_000531.2:n.7028-11C>G
NM_001042723.1:c.7028-11C>G	NP_001036188.1:n.7028-11C>G
XM_006723317.1:c.7028-11C>G	XP_006723380.1:n.7028-11C>G
XM_006723319.1:c.7028-11C>G	XP_006723382.1:n.7028-11C>G
XM_011527204.1:c.7025-11C>G	XP_011525506.1:n.7025-11C>G
XM_011527205.1:c.7028-11C>G	XP_011525507.1:n.7028-11C>G
XM_006723317.2:c.7028-11C>G	XP_006723380.1:n.7028-11C>G
XM_006723319.2:c.7028-11C>G	XP_006723382.1:n.7028-11C>G
XM_011527205.2:c.7028-11C>G	XP_011525507.1:n.7028-11C>G
XR_001753735.1:n.7111-11C>G
NM_000540.3:c.7028-11C>G MANE Select	NP_000531.2:n.7028-11C>G
NM_001042723.2:c.7028-11C>G	NP_001036188.1:n.7028-11C>G