Canonical Allele Identifier: CA2584909139

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565324-C-CGCAGTGGCGGCGCTGCTCTGGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565331_38565354dup , CM000681.2:g.38565331_38565354dup	GRCh38
NC_000019.9:g.39055971_39055994dup , CM000681.1:g.39055971_39055994dup	GRCh37
NC_000019.8:g.43747811_43747834dup	NCBI36
NG_008866.1:g.136632_136655dup , LRG_766:g.136632_136655dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1407_1430dup
ENST00000689936.1:c.1389_1412dup
ENST00000359596.8:c.12997_13020dup MANE Select	ENSP00000352608.2:p.Val4340_Thr4341insAlaAlaLeuLeuTrpAlaAlaVa...
ENST00000355481.8:c.12982_13005dup	ENSP00000347667.3:p.Val4335_Thr4336insAlaAlaLeuLeuTrpAlaAlaVa...
ENST00000359596.7:c.12997_13020dup	ENSP00000352608.2:p.Val4340_Thr4341insAlaAlaLeuLeuTrpAlaAlaVa...
ENST00000360985.7:c.12979_13002dup	ENSP00000354254.4:p.Val4334_Thr4335insAlaAlaLeuLeuTrpAlaAlaVa...
NM_000540.2:c.12997_13020dup , LRG_766t1:c.12997_13020dup	NP_000531.2:p.Val4340_Thr4341insAlaAlaLeuLeuTrpAlaAlaVal
NM_001042723.1:c.12982_13005dup	NP_001036188.1:p.Val4335_Thr4336insAlaAlaLeuLeuTrpAlaAlaVal
XM_006723317.1:c.12979_13002dup	XP_006723380.1:p.Val4334_Thr4335insAlaAlaLeuLeuTrpAlaAlaVal
XM_006723319.1:c.12964_12987dup	XP_006723382.1:p.Val4329_Thr4330insAlaAlaLeuLeuTrpAlaAlaVal
XM_011527204.1:c.12994_13017dup	XP_011525506.1:p.Val4339_Thr4340insAlaAlaLeuLeuTrpAlaAlaVal
XM_011527205.1:c.12997_13020dup	XP_011525507.1:p.Val4340_Thr4341insAlaAlaLeuLeuTrpAlaAlaVal
XM_006723317.2:c.12979_13002dup	XP_006723380.1:p.Val4334_Thr4335insAlaAlaLeuLeuTrpAlaAlaVal
XM_006723319.2:c.12964_12987dup	XP_006723382.1:p.Val4329_Thr4330insAlaAlaLeuLeuTrpAlaAlaVal
XM_011527205.2:c.12997_13020dup	XP_011525507.1:p.Val4340_Thr4341insAlaAlaLeuLeuTrpAlaAlaVal
NM_000540.3:c.12997_13020dup MANE Select	NP_000531.2:p.Val4340_Thr4341insAlaAlaLeuLeuTrpAlaAlaVal
NM_001042723.2:c.12982_13005dup	NP_001036188.1:p.Val4335_Thr4336insAlaAlaLeuLeuTrpAlaAlaVal