Canonical Allele Identifier: CA2832580623

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543701_38543702insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT , CM000681.2:g.38543701_38543702insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	GRCh38
NC_000019.9:g.39034341_39034342insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT , CM000681.1:g.39034341_39034342insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	GRCh37
NC_000019.8:g.43726181_43726182insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	NCBI36
NG_008866.1:g.115002_115003insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT , LRG_766:g.115002_115003insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.317+41_317+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT
ENST00000689936.1:c.299+41_299+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT
ENST00000359596.8:c.11907+41_11907+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT MANE Select	ENSP00000352608.2:n.11907+41_11907+42insCTGTCACATAGTAAGTACTTG...
ENST00000355481.8:c.11892+41_11892+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	ENSP00000347667.3:n.11892+41_11892+42insCTGTCACATAGTAAGTACTTG...
ENST00000359596.7:c.11907+41_11907+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	ENSP00000352608.2:n.11907+41_11907+42insCTGTCACATAGTAAGTACTTG...
ENST00000360985.7:c.11889+41_11889+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	ENSP00000354254.4:n.11889+41_11889+42insCTGTCACATAGTAAGTACTTG...
ENST00000593322.1:c.516+41_516+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT
ENST00000594335.5:c.5276+41_5276+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT
NM_000540.2:c.11907+41_11907+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT , LRG_766t1:c.11907+41_11907+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	NP_000531.2:n.11907+41_11907+42insCTGTCACATAGTAAGTACTTGATAGTT...
NM_001042723.1:c.11892+41_11892+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	NP_001036188.1:n.11892+41_11892+42insCTGTCACATAGTAAGTACTTGATA...
XM_006723317.1:c.11889+41_11889+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	XP_006723380.1:n.11889+41_11889+42insCTGTCACATAGTAAGTACTTGATA...
XM_006723319.1:c.11874+41_11874+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	XP_006723382.1:n.11874+41_11874+42insCTGTCACATAGTAAGTACTTGATA...
XM_011527204.1:c.11904+41_11904+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	XP_011525506.1:n.11904+41_11904+42insCTGTCACATAGTAAGTACTTGATA...
XM_011527205.1:c.11907+41_11907+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	XP_011525507.1:n.11907+41_11907+42insCTGTCACATAGTAAGTACTTGATA...
XM_006723317.2:c.11889+41_11889+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	XP_006723380.1:n.11889+41_11889+42insCTGTCACATAGTAAGTACTTGATA...
XM_006723319.2:c.11874+41_11874+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	XP_006723382.1:n.11874+41_11874+42insCTGTCACATAGTAAGTACTTGATA...
XM_011527205.2:c.11907+41_11907+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	XP_011525507.1:n.11907+41_11907+42insCTGTCACATAGTAAGTACTTGATA...
NM_000540.3:c.11907+41_11907+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT MANE Select	NP_000531.2:n.11907+41_11907+42insCTGTCACATAGTAAGTACTTGATAGTT...
NM_001042723.2:c.11892+41_11892+42insCTGTCACATAGTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTAT	NP_001036188.1:n.11892+41_11892+42insCTGTCACATAGTAAGTACTTGATA...