Canonical Allele Identifier: CA063882

Gene: RYR1

Linked Data

• dbSNP Id: rs780671622
• ExAC: 19:38934166 G / GTGC
• gnomAD v2: 19-38934166-G-GTGC
• gnomAD v4: 19-38443526-G-GTGC
• MyVariant Identifiers: chr19:g.38934166_38934167insTGC (hg19) ; chr19:g.38443526_38443527insTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38443528_38443530dup , CM000681.2:g.38443528_38443530dup	GRCh38
NC_000019.9:g.38934168_38934170dup , CM000681.1:g.38934168_38934170dup	GRCh37
NC_000019.8:g.43626008_43626010dup	NCBI36
NG_008866.1:g.14829_14831dup , LRG_766:g.14829_14831dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.271-30_271-28dup	ENSP00000471601.2:n.271-30_271-28dup
ENST00000359596.8:c.271-30_271-28dup MANE Select	ENSP00000352608.2:n.271-30_271-28dup
ENST00000355481.8:c.271-30_271-28dup	ENSP00000347667.3:n.271-30_271-28dup
ENST00000359596.7:c.271-30_271-28dup	ENSP00000352608.2:n.271-30_271-28dup
ENST00000360985.7:c.271-30_271-28dup	ENSP00000354254.4:n.271-30_271-28dup
NM_000540.2:c.271-30_271-28dup , LRG_766t1:c.271-30_271-28dup	NP_000531.2:n.271-30_271-28dup
NM_001042723.1:c.271-30_271-28dup	NP_001036188.1:n.271-30_271-28dup
XM_006723317.1:c.271-30_271-28dup	XP_006723380.1:n.271-30_271-28dup
XM_006723319.1:c.271-30_271-28dup	XP_006723382.1:n.271-30_271-28dup
XM_011527204.1:c.271-30_271-28dup	XP_011525506.1:n.271-30_271-28dup
XM_011527205.1:c.271-30_271-28dup	XP_011525507.1:n.271-30_271-28dup
XM_006723317.2:c.271-30_271-28dup	XP_006723380.1:n.271-30_271-28dup
XM_006723319.2:c.271-30_271-28dup	XP_006723382.1:n.271-30_271-28dup
XM_011527205.2:c.271-30_271-28dup	XP_011525507.1:n.271-30_271-28dup
XR_001753735.1:n.354-30_354-28dup
NM_000540.3:c.271-30_271-28dup MANE Select	NP_000531.2:n.271-30_271-28dup
NM_001042723.2:c.271-30_271-28dup	NP_001036188.1:n.271-30_271-28dup