Canonical Allele Identifier: CA995717507

Gene: RYR1

Linked Data

• dbSNP Id: rs1970204308
• gnomAD v3: 19-38502751-TGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA-T
• gnomAD v4: 19-38502751-TGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502765_38502830del , CM000681.2:g.38502765_38502830del	GRCh38
NC_000019.9:g.38993405_38993470del , CM000681.1:g.38993405_38993470del	GRCh37
NC_000019.8:g.43685245_43685310del	NCBI36
NG_008866.1:g.74066_74131del , LRG_766:g.74066_74131del

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7835+38_7836-50del	ENSP00000471601.2:n.7835+38_7836-50del
ENST00000359596.8:c.7835+38_7836-50del MANE Select	ENSP00000352608.2:n.7835+38_7836-50del
ENST00000355481.8:c.7835+38_7836-50del	ENSP00000347667.3:n.7835+38_7836-50del
ENST00000359596.7:c.7835+38_7836-50del	ENSP00000352608.2:n.7835+38_7836-50del
ENST00000360985.7:c.7832+38_7833-50del	ENSP00000354254.4:n.7832+38_7833-50del
ENST00000594335.5:c.1287+38_1288-50del
NM_000540.2:c.7835+38_7836-50del , LRG_766t1:c.7835+38_7836-50del	NP_000531.2:n.7835+38_7836-50del
NM_001042723.1:c.7835+38_7836-50del	NP_001036188.1:n.7835+38_7836-50del
XM_006723317.1:c.7835+38_7836-50del	XP_006723380.1:n.7835+38_7836-50del
XM_006723319.1:c.7835+38_7836-50del	XP_006723382.1:n.7835+38_7836-50del
XM_011527204.1:c.7832+38_7833-50del	XP_011525506.1:n.7832+38_7833-50del
XM_011527205.1:c.7835+38_7836-50del	XP_011525507.1:n.7835+38_7836-50del
XM_006723317.2:c.7835+38_7836-50del	XP_006723380.1:n.7835+38_7836-50del
XM_006723319.2:c.7835+38_7836-50del	XP_006723382.1:n.7835+38_7836-50del
XM_011527205.2:c.7835+38_7836-50del	XP_011525507.1:n.7835+38_7836-50del
XR_001753735.1:n.7918+38_7919-50del
NM_000540.3:c.7835+38_7836-50del MANE Select	NP_000531.2:n.7835+38_7836-50del
NM_001042723.2:c.7835+38_7836-50del	NP_001036188.1:n.7835+38_7836-50del