Canonical Allele Identifier: CA081239

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580386_38580387insAGG , CM000681.2:g.38580386_38580387insAGG	GRCh38
NC_000019.9:g.39071026_39071027insAGG , CM000681.1:g.39071026_39071027insAGG	GRCh37
NC_000019.8:g.43762866_43762867insAGG	NCBI36
NG_008866.1:g.151687_151688insAGG , LRG_766:g.151687_151688insAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1464_1465insAGG
ENST00000688602.1:c.2861_2862insAGG
ENST00000689936.1:c.2833_2834insAGG
ENST00000359596.8:c.14528_14529insAGG MANE Select	ENSP00000352608.2:p.Gly4843_Leu4844insGly...
ENST00000355481.8:c.14513_14514insAGG	ENSP00000347667.3:p.Gly4838_Leu4839insGly...
ENST00000359596.7:c.14528_14529insAGG	ENSP00000352608.2:p.Gly4843_Leu4844insGly...
ENST00000360985.7:c.14510_14511insAGG	ENSP00000354254.4:p.Gly4837_Leu4838insGly...
NM_000540.2:c.14528_14529insAGG , LRG_766t1:c.14528_14529insAGG	NP_000531.2:p.Gly4843_Leu4844insGly
NM_001042723.1:c.14513_14514insAGG	NP_001036188.1:p.Gly4838_Leu4839insGly
XM_006723317.1:c.14510_14511insAGG	XP_006723380.1:p.Gly4837_Leu4838insGly
XM_006723319.1:c.14495_14496insAGG	XP_006723382.1:p.Gly4832_Leu4833insGly
XM_011527204.1:c.14525_14526insAGG	XP_011525506.1:p.Gly4842_Leu4843insGly
XM_011527205.1:c.14441_14442insAGG	XP_011525507.1:p.Gly4814_Leu4815insGly
XM_006723317.2:c.14510_14511insAGG	XP_006723380.1:p.Gly4837_Leu4838insGly
XM_006723319.2:c.14495_14496insAGG	XP_006723382.1:p.Gly4832_Leu4833insGly
XM_011527205.2:c.14441_14442insAGG	XP_011525507.1:p.Gly4814_Leu4815insGly
NM_000540.3:c.14528_14529insAGG MANE Select	NP_000531.2:p.Gly4843_Leu4844insGly
NM_001042723.2:c.14513_14514insAGG	NP_001036188.1:p.Gly4838_Leu4839insGly