Canonical Allele Identifier: CA069517

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1634279
• ClinVar RCV Id: RCV002124448
• dbSNP Id: rs769854361
• ExAC: 19:38991233 CT / C
• gnomAD v2: 19-38991233-CT-C
• gnomAD v3: 19-38500593-CT-C
• gnomAD v4: 19-38500593-CT-C
• MyVariant Identifiers: chr19:g.38991234del (hg19) ; chr19:g.38500594del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38500594del , CM000681.2:g.38500594del	GRCh38
NC_000019.9:g.38991234del , CM000681.1:g.38991234del	GRCh37
NC_000019.8:g.43683074del	NCBI36
NG_008866.1:g.71895del , LRG_766:g.71895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7324-12del	ENSP00000471601.2:n.7324-12del
ENST00000359596.8:c.7324-12del MANE Select	ENSP00000352608.2:n.7324-12del
ENST00000355481.8:c.7324-12del	ENSP00000347667.3:n.7324-12del
ENST00000359596.7:c.7324-12del	ENSP00000352608.2:n.7324-12del
ENST00000360985.7:c.7321-12del	ENSP00000354254.4:n.7321-12del
ENST00000594335.5:c.776-12del
NM_000540.2:c.7324-12del , LRG_766t1:c.7324-12del	NP_000531.2:n.7324-12del
NM_001042723.1:c.7324-12del	NP_001036188.1:n.7324-12del
XM_006723317.1:c.7324-12del	XP_006723380.1:n.7324-12del
XM_006723319.1:c.7324-12del	XP_006723382.1:n.7324-12del
XM_011527204.1:c.7321-12del	XP_011525506.1:n.7321-12del
XM_011527205.1:c.7324-12del	XP_011525507.1:n.7324-12del
XM_006723317.2:c.7324-12del	XP_006723380.1:n.7324-12del
XM_006723319.2:c.7324-12del	XP_006723382.1:n.7324-12del
XM_011527205.2:c.7324-12del	XP_011525507.1:n.7324-12del
XR_001753735.1:n.7407-12del
NM_000540.3:c.7324-12del MANE Select	NP_000531.2:n.7324-12del
NM_001042723.2:c.7324-12del	NP_001036188.1:n.7324-12del