Canonical Allele Identifier: CA308125531

Gene: RYR1

Linked Data

• dbSNP Id: rs547827407
• gnomAD v2: 19-38948583-ATC-A
• gnomAD v3: 19-38457943-ATC-A
• gnomAD v4: 19-38457943-ATC-A
• MyVariant Identifiers: chr19:g.38948584_38948585del (hg19) ; chr19:g.38457944_38457945del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38457955_38457956del , CM000681.2:g.38457955_38457956del	GRCh38
NC_000019.9:g.38948595_38948596del , CM000681.1:g.38948595_38948596del	GRCh37
NC_000019.8:g.43640435_43640436del	NCBI36
NG_008866.1:g.29256_29257del , LRG_766:g.29256_29257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1926-96_1926-95del	ENSP00000471601.2:n.1926-96_1926-95del
ENST00000359596.8:c.1926-96_1926-95del MANE Select	ENSP00000352608.2:n.1926-96_1926-95del
ENST00000355481.8:c.1926-96_1926-95del	ENSP00000347667.3:n.1926-96_1926-95del
ENST00000359596.7:c.1926-96_1926-95del	ENSP00000352608.2:n.1926-96_1926-95del
ENST00000360985.7:c.1926-96_1926-95del	ENSP00000354254.4:n.1926-96_1926-95del
NM_000540.2:c.1926-96_1926-95del , LRG_766t1:c.1926-96_1926-95del	NP_000531.2:n.1926-96_1926-95del
NM_001042723.1:c.1926-96_1926-95del	NP_001036188.1:n.1926-96_1926-95del
XM_006723317.1:c.1926-96_1926-95del	XP_006723380.1:n.1926-96_1926-95del
XM_006723319.1:c.1926-96_1926-95del	XP_006723382.1:n.1926-96_1926-95del
XM_011527204.1:c.1923-96_1923-95del	XP_011525506.1:n.1923-96_1923-95del
XM_011527205.1:c.1926-96_1926-95del	XP_011525507.1:n.1926-96_1926-95del
XM_006723317.2:c.1926-96_1926-95del	XP_006723380.1:n.1926-96_1926-95del
XM_006723319.2:c.1926-96_1926-95del	XP_006723382.1:n.1926-96_1926-95del
XM_011527205.2:c.1926-96_1926-95del	XP_011525507.1:n.1926-96_1926-95del
XR_001753735.1:n.2009-96_2009-95del
NM_000540.3:c.1926-96_1926-95del MANE Select	NP_000531.2:n.1926-96_1926-95del
NM_001042723.2:c.1926-96_1926-95del	NP_001036188.1:n.1926-96_1926-95del