Canonical Allele Identifier: CA632869706

Gene: RYR1

Linked Data

• dbSNP Id: rs764320470
• gnomAD v2: 19-39034382-TC-T
• gnomAD v4: 19-38543742-TC-T
• COSMIC: COSN5854111
• MyVariant Identifiers: chr19:g.39034383del (hg19) ; chr19:g.38543743del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543749del , CM000681.2:g.38543749del	GRCh38
NC_000019.9:g.39034389del , CM000681.1:g.39034389del	GRCh37
NC_000019.8:g.43726229del	NCBI36
NG_008866.1:g.115050del , LRG_766:g.115050del

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.318-22del
ENST00000689936.1:c.300-22del
ENST00000359596.8:c.11908-22del MANE Select	ENSP00000352608.2:n.11908-22del
ENST00000355481.8:c.11893-22del	ENSP00000347667.3:n.11893-22del
ENST00000359596.7:c.11908-22del	ENSP00000352608.2:n.11908-22del
ENST00000360985.7:c.11890-22del	ENSP00000354254.4:n.11890-22del
ENST00000593322.1:c.517-22del
ENST00000594335.5:c.5277-22del
NM_000540.2:c.11908-22del , LRG_766t1:c.11908-22del	NP_000531.2:n.11908-22del
NM_001042723.1:c.11893-22del	NP_001036188.1:n.11893-22del
XM_006723317.1:c.11890-22del	XP_006723380.1:n.11890-22del
XM_006723319.1:c.11875-22del	XP_006723382.1:n.11875-22del
XM_011527204.1:c.11905-22del	XP_011525506.1:n.11905-22del
XM_011527205.1:c.11908-22del	XP_011525507.1:n.11908-22del
XM_006723317.2:c.11890-22del	XP_006723380.1:n.11890-22del
XM_006723319.2:c.11875-22del	XP_006723382.1:n.11875-22del
XM_011527205.2:c.11908-22del	XP_011525507.1:n.11908-22del
NM_000540.3:c.11908-22del MANE Select	NP_000531.2:n.11908-22del
NM_001042723.2:c.11893-22del	NP_001036188.1:n.11893-22del