Canonical Allele Identifier: CA1139666438

Gene: RYR1

Linked Data

• ClinVar Variation Id: 934661
• ClinVar RCV Id: RCV001203098
• dbSNP Id: rs1973360239

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565402_38565412del , CM000681.2:g.38565402_38565412del	GRCh38
NC_000019.9:g.39056042_39056052del , CM000681.1:g.39056042_39056052del	GRCh37
NC_000019.8:g.43747882_43747892del	NCBI36
NG_008866.1:g.136703_136713del , LRG_766:g.136703_136713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1478_1488del
ENST00000689936.1:c.1460_1470del
ENST00000359596.8:c.13068_13078del MANE Select	ENSP00000352608.2:p.Leu4358AlafsTer?
ENST00000355481.8:c.13053_13063del	ENSP00000347667.3:p.Leu4353AlafsTer?
ENST00000359596.7:c.13068_13078del	ENSP00000352608.2:p.Leu4358AlafsTer?
ENST00000360985.7:c.13050_13060del	ENSP00000354254.4:p.Leu4352AlafsTer?
NM_000540.2:c.13068_13078del , LRG_766t1:c.13068_13078del	NP_000531.2:p.Leu4358AlafsTer?
NM_001042723.1:c.13053_13063del	NP_001036188.1:p.Leu4353AlafsTer?
XM_006723317.1:c.13050_13060del	XP_006723380.1:p.Leu4352AlafsTer?
XM_006723319.1:c.13035_13045del	XP_006723382.1:p.Leu4347AlafsTer?
XM_011527204.1:c.13065_13075del	XP_011525506.1:p.Leu4357AlafsTer?
XM_011527205.1:c.13068_13078del	XP_011525507.1:p.Leu4358AlafsTer?
XM_006723317.2:c.13050_13060del	XP_006723380.1:p.Leu4352AlafsTer?
XM_006723319.2:c.13035_13045del	XP_006723382.1:p.Leu4347AlafsTer?
XM_011527205.2:c.13068_13078del	XP_011525507.1:p.Leu4358AlafsTer?
NM_000540.3:c.13068_13078del MANE Select	NP_000531.2:p.Leu4358AlafsTer?
NM_001042723.2:c.13053_13063del	NP_001036188.1:p.Leu4353AlafsTer?