Canonical Allele Identifier: CA308109474

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1354990
• ClinVar RCV Id: RCV001876382 ; RCV002482461
• dbSNP Id: rs1036726331
• gnomAD v3: 19-38565359-G-GCGCTGGGGC
• gnomAD v4: 19-38565359-G-GCGCTGGGGC
• MyVariant Identifiers: chr19:g.39055999_39056000insCGCTGGGGC (hg19) ; chr19:g.38565359_38565360insCGCTGGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565366_38565374dup , CM000681.2:g.38565366_38565374dup	GRCh38
NC_000019.9:g.39056006_39056014dup , CM000681.1:g.39056006_39056014dup	GRCh37
NC_000019.8:g.43747846_43747854dup	NCBI36
NG_008866.1:g.136667_136675dup , LRG_766:g.136667_136675dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1442_1450dup
ENST00000689936.1:c.1424_1432dup
ENST00000359596.8:c.13032_13040dup MANE Select	ENSP00000352608.2:p.Gly4347_Ala4348insAlaAlaGly
ENST00000355481.8:c.13017_13025dup	ENSP00000347667.3:p.Gly4342_Ala4343insAlaAlaGly
ENST00000359596.7:c.13032_13040dup	ENSP00000352608.2:p.Gly4347_Ala4348insAlaAlaGly
ENST00000360985.7:c.13014_13022dup	ENSP00000354254.4:p.Gly4341_Ala4342insAlaAlaGly
NM_000540.2:c.13032_13040dup , LRG_766t1:c.13032_13040dup	NP_000531.2:p.Gly4347_Ala4348insAlaAlaGly
NM_001042723.1:c.13017_13025dup	NP_001036188.1:p.Gly4342_Ala4343insAlaAlaGly
XM_006723317.1:c.13014_13022dup	XP_006723380.1:p.Gly4341_Ala4342insAlaAlaGly
XM_006723319.1:c.12999_13007dup	XP_006723382.1:p.Gly4336_Ala4337insAlaAlaGly
XM_011527204.1:c.13029_13037dup	XP_011525506.1:p.Gly4346_Ala4347insAlaAlaGly
XM_011527205.1:c.13032_13040dup	XP_011525507.1:p.Gly4347_Ala4348insAlaAlaGly
XM_006723317.2:c.13014_13022dup	XP_006723380.1:p.Gly4341_Ala4342insAlaAlaGly
XM_006723319.2:c.12999_13007dup	XP_006723382.1:p.Gly4336_Ala4337insAlaAlaGly
XM_011527205.2:c.13032_13040dup	XP_011525507.1:p.Gly4347_Ala4348insAlaAlaGly
NM_000540.3:c.13032_13040dup MANE Select	NP_000531.2:p.Gly4347_Ala4348insAlaAlaGly
NM_001042723.2:c.13017_13025dup	NP_001036188.1:p.Gly4342_Ala4343insAlaAlaGly