Canonical Allele Identifier: CA308114642

Gene: RYR1

Linked Data

• dbSNP Id: rs762435782
• gnomAD v2: 19-38937667-A-AC
• gnomAD v3: 19-38447027-A-AC
• gnomAD v4: 19-38447027-A-AC
• MyVariant Identifiers: chr19:g.38937667_38937668insC (hg19) ; chr19:g.38447027_38447028insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38447032dup , CM000681.2:g.38447032dup	GRCh38
NC_000019.9:g.38937672dup , CM000681.1:g.38937672dup	GRCh37
NC_000019.8:g.43629512dup	NCBI36
NG_008866.1:g.18333dup , LRG_766:g.18333dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.800+264dup	ENSP00000471601.2:n.800+264dup
ENST00000359596.8:c.800+264dup MANE Select	ENSP00000352608.2:n.800+264dup
ENST00000355481.8:c.800+264dup	ENSP00000347667.3:n.800+264dup
ENST00000359596.7:c.800+264dup	ENSP00000352608.2:n.800+264dup
ENST00000360985.7:c.800+264dup	ENSP00000354254.4:n.800+264dup
NM_000540.2:c.800+264dup , LRG_766t1:c.800+264dup	NP_000531.2:n.800+264dup
NM_001042723.1:c.800+264dup	NP_001036188.1:n.800+264dup
XM_006723317.1:c.800+264dup	XP_006723380.1:n.800+264dup
XM_006723319.1:c.800+264dup	XP_006723382.1:n.800+264dup
XM_011527204.1:c.800+264dup	XP_011525506.1:n.800+264dup
XM_011527205.1:c.800+264dup	XP_011525507.1:n.800+264dup
XM_006723317.2:c.800+264dup	XP_006723380.1:n.800+264dup
XM_006723319.2:c.800+264dup	XP_006723382.1:n.800+264dup
XM_011527205.2:c.800+264dup	XP_011525507.1:n.800+264dup
XR_001753735.1:n.883+264dup
NM_000540.3:c.800+264dup MANE Select	NP_000531.2:n.800+264dup
NM_001042723.2:c.800+264dup	NP_001036188.1:n.800+264dup