Canonical Allele Identifier: CA882043774

Gene: RYR1

Linked Data

• dbSNP Id: rs1194246851
• gnomAD v3: 19-38457830-CTCTA-C
• gnomAD v4: 19-38457830-CTCTA-C
• MyVariant Identifiers: chr19:g.38948471_38948474del (hg19) ; chr19:g.38457831_38457834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38457834_38457837del , CM000681.2:g.38457834_38457837del	GRCh38
NC_000019.9:g.38948474_38948477del , CM000681.1:g.38948474_38948477del	GRCh37
NC_000019.8:g.43640314_43640317del	NCBI36
NG_008866.1:g.29135_29138del , LRG_766:g.29135_29138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1925+204_1925+207del	ENSP00000471601.2:n.1925+204_1925+207del
ENST00000359596.8:c.1925+204_1925+207del MANE Select	ENSP00000352608.2:n.1925+204_1925+207del
ENST00000355481.8:c.1925+204_1925+207del	ENSP00000347667.3:n.1925+204_1925+207del
ENST00000359596.7:c.1925+204_1925+207del	ENSP00000352608.2:n.1925+204_1925+207del
ENST00000360985.7:c.1925+204_1925+207del	ENSP00000354254.4:n.1925+204_1925+207del
NM_000540.2:c.1925+204_1925+207del , LRG_766t1:c.1925+204_1925+207del	NP_000531.2:n.1925+204_1925+207del
NM_001042723.1:c.1925+204_1925+207del	NP_001036188.1:n.1925+204_1925+207del
XM_006723317.1:c.1925+204_1925+207del	XP_006723380.1:n.1925+204_1925+207del
XM_006723319.1:c.1925+204_1925+207del	XP_006723382.1:n.1925+204_1925+207del
XM_011527204.1:c.1922+204_1922+207del	XP_011525506.1:n.1922+204_1922+207del
XM_011527205.1:c.1925+204_1925+207del	XP_011525507.1:n.1925+204_1925+207del
XM_006723317.2:c.1925+204_1925+207del	XP_006723380.1:n.1925+204_1925+207del
XM_006723319.2:c.1925+204_1925+207del	XP_006723382.1:n.1925+204_1925+207del
XM_011527205.2:c.1925+204_1925+207del	XP_011525507.1:n.1925+204_1925+207del
XR_001753735.1:n.2008+204_2008+207del
NM_000540.3:c.1925+204_1925+207del MANE Select	NP_000531.2:n.1925+204_1925+207del
NM_001042723.2:c.1925+204_1925+207del	NP_001036188.1:n.1925+204_1925+207del