Canonical Allele Identifier: CA024095

Gene: RYR1

Linked Data

• ClinVar Variation Id: 133055
• ClinVar RCV Id: RCV000119495 ; RCV001450012
• dbSNP Id: rs193922862
• MyVariant Identifiers: chr19:g.39062906_39062907delinsCT (hg19) ; chr19:g.38572266_38572267delinsCT (hg38)
• PubMed: PMID:17483490
• ERepo: CA024095/MONDO:0018493/012

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572266_38572267delinsCT , CM000681.2:g.38572266_38572267delinsCT	GRCh38
NC_000019.9:g.39062906_39062907delinsCT , CM000681.1:g.39062906_39062907delinsCT	GRCh37
NC_000019.8:g.43754746_43754747delinsCT	NCBI36
NG_008866.1:g.143567_143568delinsCT , LRG_766:g.143567_143568delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.930_931delinsCT
ENST00000688602.1:c.2327_2328delinsCT
ENST00000689936.1:c.2299_2300delinsCT
ENST00000359596.8:c.13994_13995delinsCT MANE Select	ENSP00000352608.2:p.Leu4665Pro
ENST00000355481.8:c.13979_13980delinsCT	ENSP00000347667.3:p.Leu4660Pro
ENST00000359596.7:c.13994_13995delinsCT	ENSP00000352608.2:p.Leu4665Pro
ENST00000360985.7:c.13976_13977delinsCT	ENSP00000354254.4:p.Leu4659Pro
NM_000540.2:c.13994_13995delinsCT , LRG_766t1:c.13994_13995delinsCT	NP_000531.2:p.Leu4665Pro
NM_001042723.1:c.13979_13980delinsCT	NP_001036188.1:p.Leu4660Pro
XM_006723317.1:c.13976_13977delinsCT	XP_006723380.1:p.Leu4659Pro
XM_006723319.1:c.13961_13962delinsCT	XP_006723382.1:p.Leu4654Pro
XM_011527204.1:c.13991_13992delinsCT	XP_011525506.1:p.Leu4664Pro
XM_011527205.1:c.13907_13908delinsCT	XP_011525507.1:p.Leu4636Pro
XM_006723317.2:c.13976_13977delinsCT	XP_006723380.1:p.Leu4659Pro
XM_006723319.2:c.13961_13962delinsCT	XP_006723382.1:p.Leu4654Pro
XM_011527205.2:c.13907_13908delinsCT	XP_011525507.1:p.Leu4636Pro
NM_000540.3:c.13994_13995delinsCT MANE Select	NP_000531.2:p.Leu4665Pro
NM_001042723.2:c.13979_13980delinsCT	NP_001036188.1:p.Leu4660Pro