Canonical Allele Identifier: CA10603893
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281480
ClinVar RCV Id: RCV000308112
dbSNP Id: rs886042171
MyVariant Identifiers: chr19:g.39051785_39051798del (hg19) chr19:g.38561145_38561158del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38561145_38561158del , CM000681.2:g.38561145_38561158del GRCh38
NC_000019.9:g.39051785_39051798del , CM000681.1:g.39051785_39051798del GRCh37
NC_000019.8:g.43743625_43743638del NCBI36
NG_008866.1:g.132446_132459del , LRG_766:g.132446_132459del

Transcript Alleles

HGVS Amino-acid change
ENST00000688602.1:c.725_738del
ENST00000689936.1:c.707_720del
ENST00000359596.8:c.12315_12328del MANE Select ENSP00000352608.2:p.Glu4106AlafsTer8
ENST00000355481.8:c.12300_12313del ENSP00000347667.3:p.Glu4101AlafsTer8
ENST00000359596.7:c.12315_12328del ENSP00000352608.2:p.Glu4106AlafsTer8
ENST00000360985.7:c.12297_12310del ENSP00000354254.4:p.Glu4100AlafsTer8
ENST00000594335.5:c.5684_5697del
NM_000540.2:c.12315_12328del , LRG_766t1:c.12315_12328del NP_000531.2:p.Glu4106AlafsTer8
NM_001042723.1:c.12300_12313del NP_001036188.1:p.Glu4101AlafsTer8
XM_006723317.1:c.12297_12310del XP_006723380.1:p.Glu4100AlafsTer8
XM_006723319.1:c.12282_12295del XP_006723382.1:p.Glu4095AlafsTer8
XM_011527204.1:c.12312_12325del XP_011525506.1:p.Glu4105AlafsTer8
XM_011527205.1:c.12315_12328del XP_011525507.1:p.Glu4106AlafsTer8
XM_006723317.2:c.12297_12310del XP_006723380.1:p.Glu4100AlafsTer8
XM_006723319.2:c.12282_12295del XP_006723382.1:p.Glu4095AlafsTer8
XM_011527205.2:c.12315_12328del XP_011525507.1:p.Glu4106AlafsTer8
NM_000540.3:c.12315_12328del MANE Select NP_000531.2:p.Glu4106AlafsTer8
NM_001042723.2:c.12300_12313del NP_001036188.1:p.Glu4101AlafsTer8
Search 100 bp 5'
Search 100 bp 3'