Canonical Allele Identifier: CA633066781

Gene: RYR1

Linked Data

• dbSNP Id: rs1161663481
• gnomAD v2: 19-39055566-G-GCGCCCTATCCTGTCTGC
• gnomAD v3: 19-38564926-G-GCGCCCTATCCTGTCTGC
• gnomAD v4: 19-38564926-G-GCGCCCTATCCTGTCTGC
• MyVariant Identifiers: chr19:g.39055566_39055567insCGCCCTATCCTGTCTGC (hg19) ; chr19:g.38564926_38564927insCGCCCTATCCTGTCTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38564932_38564948dup , CM000681.2:g.38564932_38564948dup	GRCh38
NC_000019.9:g.39055572_39055588dup , CM000681.1:g.39055572_39055588dup	GRCh37
NC_000019.8:g.43747412_43747428dup	NCBI36
NG_008866.1:g.136233_136249dup , LRG_766:g.136233_136249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1035-27_1035-11dup
ENST00000689936.1:c.1017-27_1017-11dup
ENST00000359596.8:c.12625-27_12625-11dup MANE Select	ENSP00000352608.2:n.12625-27_12625-11dup
ENST00000355481.8:c.12610-27_12610-11dup	ENSP00000347667.3:n.12610-27_12610-11dup
ENST00000359596.7:c.12625-27_12625-11dup	ENSP00000352608.2:n.12625-27_12625-11dup
ENST00000360985.7:c.12607-27_12607-11dup	ENSP00000354254.4:n.12607-27_12607-11dup
ENST00000594335.5:c.5994-27_5994-11dup
NM_000540.2:c.12625-27_12625-11dup , LRG_766t1:c.12625-27_12625-11dup	NP_000531.2:n.12625-27_12625-11dup
NM_001042723.1:c.12610-27_12610-11dup	NP_001036188.1:n.12610-27_12610-11dup
XM_006723317.1:c.12607-27_12607-11dup	XP_006723380.1:n.12607-27_12607-11dup
XM_006723319.1:c.12592-27_12592-11dup	XP_006723382.1:n.12592-27_12592-11dup
XM_011527204.1:c.12622-27_12622-11dup	XP_011525506.1:n.12622-27_12622-11dup
XM_011527205.1:c.12625-27_12625-11dup	XP_011525507.1:n.12625-27_12625-11dup
XM_006723317.2:c.12607-27_12607-11dup	XP_006723380.1:n.12607-27_12607-11dup
XM_006723319.2:c.12592-27_12592-11dup	XP_006723382.1:n.12592-27_12592-11dup
XM_011527205.2:c.12625-27_12625-11dup	XP_011525507.1:n.12625-27_12625-11dup
NM_000540.3:c.12625-27_12625-11dup MANE Select	NP_000531.2:n.12625-27_12625-11dup
NM_001042723.2:c.12610-27_12610-11dup	NP_001036188.1:n.12610-27_12610-11dup