Canonical Allele Identifier: CA024191

Gene: RYR1

Linked Data

• ClinVar Variation Id: 133080
• ClinVar RCV Id: RCV000119534
• dbSNP Id: rs193922882
• MyVariant Identifiers: chr19:g.39071086_39071103del (hg19) ; chr19:g.38580446_38580463del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580446_38580463del , CM000681.2:g.38580446_38580463del	GRCh38
NC_000019.9:g.39071086_39071103del , CM000681.1:g.39071086_39071103del	GRCh37
NC_000019.8:g.43762926_43762943del	NCBI36
NG_008866.1:g.151747_151764del , LRG_766:g.151747_151764del

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1524_1541del
ENST00000688602.1:c.2921_2938del
ENST00000689936.1:c.2893_2910del
ENST00000359596.8:c.14588_14605del MANE Select	ENSP00000352608.2:p.Phe4863_Asp4869delins...
ENST00000355481.8:c.14573_14590del	ENSP00000347667.3:p.Phe4858_Asp4864delins...
ENST00000359596.7:c.14588_14605del	ENSP00000352608.2:p.Phe4863_Asp4869delins...
ENST00000360985.7:c.14570_14587del	ENSP00000354254.4:p.Phe4857_Asp4863delins...
NM_000540.2:c.14588_14605del , LRG_766t1:c.14588_14605del	NP_000531.2:p.Phe4863_Asp4869delinsTyr
NM_001042723.1:c.14573_14590del	NP_001036188.1:p.Phe4858_Asp4864delinsTyr...
XM_006723317.1:c.14570_14587del	XP_006723380.1:p.Phe4857_Asp4863delinsTyr...
XM_006723319.1:c.14555_14572del	XP_006723382.1:p.Phe4852_Asp4858delinsTyr...
XM_011527204.1:c.14585_14602del	XP_011525506.1:p.Phe4862_Asp4868delinsTyr...
XM_011527205.1:c.14501_14518del	XP_011525507.1:p.Phe4834_Asp4840delinsTyr...
XM_006723317.2:c.14570_14587del	XP_006723380.1:p.Phe4857_Asp4863delinsTyr...
XM_006723319.2:c.14555_14572del	XP_006723382.1:p.Phe4852_Asp4858delinsTyr...
XM_011527205.2:c.14501_14518del	XP_011525507.1:p.Phe4834_Asp4840delinsTyr...
NM_000540.3:c.14588_14605del MANE Select	NP_000531.2:p.Phe4863_Asp4869delinsTyr
NM_001042723.2:c.14573_14590del	NP_001036188.1:p.Phe4858_Asp4864delinsTyr...