Canonical Allele Identifier: CA882055016

Gene: RYR1

Linked Data

• dbSNP Id: rs1264905227
• gnomAD v3: 19-38584645-G-GC
• gnomAD v4: 19-38584645-G-GC
• MyVariant Identifiers: chr19:g.39075285_39075286insC (hg19) ; chr19:g.38584645_38584646insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584651dup , CM000681.2:g.38584651dup	GRCh38
NC_000019.9:g.39075291dup , CM000681.1:g.39075291dup	GRCh37
NC_000019.8:g.43767131dup	NCBI36
NG_008866.1:g.155952dup , LRG_766:g.155952dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-292dup
ENST00000688602.1:c.2980-292dup
ENST00000689936.1:c.2952-292dup
ENST00000359596.8:c.14647-292dup MANE Select	ENSP00000352608.2:n.14647-292dup
ENST00000355481.8:c.14632-292dup	ENSP00000347667.3:n.14632-292dup
ENST00000359596.7:c.14647-292dup	ENSP00000352608.2:n.14647-292dup
ENST00000360985.7:c.14629-292dup	ENSP00000354254.4:n.14629-292dup
NM_000540.2:c.14647-292dup , LRG_766t1:c.14647-292dup	NP_000531.2:n.14647-292dup
NM_001042723.1:c.14632-292dup	NP_001036188.1:n.14632-292dup
XM_006723317.1:c.14629-292dup	XP_006723380.1:n.14629-292dup
XM_006723319.1:c.14614-292dup	XP_006723382.1:n.14614-292dup
XM_011527204.1:c.14644-292dup	XP_011525506.1:n.14644-292dup
XM_011527205.1:c.14560-292dup	XP_011525507.1:n.14560-292dup
XM_006723317.2:c.14629-292dup	XP_006723380.1:n.14629-292dup
XM_006723319.2:c.14614-292dup	XP_006723382.1:n.14614-292dup
XM_011527205.2:c.14560-292dup	XP_011525507.1:n.14560-292dup
NM_000540.3:c.14647-292dup MANE Select	NP_000531.2:n.14647-292dup
NM_001042723.2:c.14632-292dup	NP_001036188.1:n.14632-292dup