Canonical Allele Identifier: CA658658815

Gene: RYR1

Linked Data

• ClinVar Variation Id: 478199
• ClinVar RCV Id: RCV000532700 ; RCV000598900 ; RCV001450010
• ERepo: CA658658815/MONDO:0018493/012
• PubMed: PMID:21455645

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580039_38580040delinsAA , CM000681.2:g.38580039_38580040delinsAA	GRCh38
NC_000019.9:g.39070679_39070680delinsAA , CM000681.1:g.39070679_39070680delinsAA	GRCh37
NC_000019.8:g.43762519_43762520delinsAA	NCBI36
NG_008866.1:g.151340_151341delinsAA , LRG_766:g.151340_151341delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1358_1359delinsAA
ENST00000688602.1:c.2755_2756delinsAA
ENST00000689936.1:c.2727_2728delinsAA
ENST00000359596.8:c.14422_14423delinsAA MANE Select	ENSP00000352608.2:p.Phe4808Asn
ENST00000355481.8:c.14407_14408delinsAA	ENSP00000347667.3:p.Phe4803Asn
ENST00000359596.7:c.14422_14423delinsAA	ENSP00000352608.2:p.Phe4808Asn
ENST00000360985.7:c.14404_14405delinsAA	ENSP00000354254.4:p.Phe4802Asn
NM_000540.2:c.14422_14423delinsAA , LRG_766t1:c.14422_14423delinsAA	NP_000531.2:p.Phe4808Asn
NM_001042723.1:c.14407_14408delinsAA	NP_001036188.1:p.Phe4803Asn
XM_006723317.1:c.14404_14405delinsAA	XP_006723380.1:p.Phe4802Asn
XM_006723319.1:c.14389_14390delinsAA	XP_006723382.1:p.Phe4797Asn
XM_011527204.1:c.14419_14420delinsAA	XP_011525506.1:p.Phe4807Asn
XM_011527205.1:c.14335_14336delinsAA	XP_011525507.1:p.Phe4779Asn
XM_006723317.2:c.14404_14405delinsAA	XP_006723380.1:p.Phe4802Asn
XM_006723319.2:c.14389_14390delinsAA	XP_006723382.1:p.Phe4797Asn
XM_011527205.2:c.14335_14336delinsAA	XP_011525507.1:p.Phe4779Asn
NM_000540.3:c.14422_14423delinsAA MANE Select	NP_000531.2:p.Phe4808Asn
NM_001042723.2:c.14407_14408delinsAA	NP_001036188.1:p.Phe4803Asn