Canonical Allele Identifier: CA081067

Gene: RYR1

Linked Data

• dbSNP Id: rs769017162
• ExAC: 19:39063771 AGCCAAGGTGCCTGAC / A
• gnomAD v2: 19-39063771-AGCCAAGGTGCCTGAC-A
• gnomAD v3: 19-38573131-AGCCAAGGTGCCTGAC-A
• gnomAD v4: 19-38573131-AGCCAAGGTGCCTGAC-A
• MyVariant Identifiers: chr19:g.39063772_39063786del (hg19) ; chr19:g.38573132_38573146del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573135_38573149del , CM000681.2:g.38573135_38573149del	GRCh38
NC_000019.9:g.39063775_39063789del , CM000681.1:g.39063775_39063789del	GRCh37
NC_000019.8:g.43755615_43755629del	NCBI36
NG_008866.1:g.144436_144450del , LRG_766:g.144436_144450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.935-42_935-28del
ENST00000688602.1:c.2332-42_2332-28del
ENST00000689936.1:c.2304-42_2304-28del
ENST00000359596.8:c.13999-42_13999-28del MANE Select	ENSP00000352608.2:n.13999-42_13999-28del
ENST00000355481.8:c.13984-42_13984-28del	ENSP00000347667.3:n.13984-42_13984-28del
ENST00000359596.7:c.13999-42_13999-28del	ENSP00000352608.2:n.13999-42_13999-28del
ENST00000360985.7:c.13981-42_13981-28del	ENSP00000354254.4:n.13981-42_13981-28del
NM_000540.2:c.13999-42_13999-28del , LRG_766t1:c.13999-42_13999-28del	NP_000531.2:n.13999-42_13999-28del
NM_001042723.1:c.13984-42_13984-28del	NP_001036188.1:n.13984-42_13984-28del
XM_006723317.1:c.13981-42_13981-28del	XP_006723380.1:n.13981-42_13981-28del
XM_006723319.1:c.13966-42_13966-28del	XP_006723382.1:n.13966-42_13966-28del
XM_011527204.1:c.13996-42_13996-28del	XP_011525506.1:n.13996-42_13996-28del
XM_011527205.1:c.13912-42_13912-28del	XP_011525507.1:n.13912-42_13912-28del
XM_006723317.2:c.13981-42_13981-28del	XP_006723380.1:n.13981-42_13981-28del
XM_006723319.2:c.13966-42_13966-28del	XP_006723382.1:n.13966-42_13966-28del
XM_011527205.2:c.13912-42_13912-28del	XP_011525507.1:n.13912-42_13912-28del
NM_000540.3:c.13999-42_13999-28del MANE Select	NP_000531.2:n.13999-42_13999-28del
NM_001042723.2:c.13984-42_13984-28del	NP_001036188.1:n.13984-42_13984-28del