Canonical Allele Identifier: CA920105658

Gene: RYR1

Linked Data

• dbSNP Id: rs1568496429

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38496469dup , CM000681.2:g.38496469dup	GRCh38
NC_000019.9:g.38987109dup , CM000681.1:g.38987109dup	GRCh37
NC_000019.8:g.43678949dup	NCBI36
NG_008866.1:g.67770dup , LRG_766:g.67770dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6724dup	ENSP00000471601.2:p.Ile2242AsnfsTer11
ENST00000359596.8:c.6724dup MANE Select	ENSP00000352608.2:p.Ile2242AsnfsTer11
ENST00000355481.8:c.6724dup	ENSP00000347667.3:p.Ile2242AsnfsTer11
ENST00000359596.7:c.6724dup	ENSP00000352608.2:p.Ile2242AsnfsTer11
ENST00000360985.7:c.6721dup	ENSP00000354254.4:p.Ile2241AsnfsTer11
ENST00000594335.5:c.176dup
NM_000540.2:c.6724dup , LRG_766t1:c.6724dup	NP_000531.2:p.Ile2242AsnfsTer11
NM_001042723.1:c.6724dup	NP_001036188.1:p.Ile2242AsnfsTer11
XM_006723317.1:c.6724dup	XP_006723380.1:p.Ile2242AsnfsTer11
XM_006723319.1:c.6724dup	XP_006723382.1:p.Ile2242AsnfsTer11
XM_011527204.1:c.6721dup	XP_011525506.1:p.Ile2241AsnfsTer11
XM_011527205.1:c.6724dup	XP_011525507.1:p.Ile2242AsnfsTer11
XM_006723317.2:c.6724dup	XP_006723380.1:p.Ile2242AsnfsTer11
XM_006723319.2:c.6724dup	XP_006723382.1:p.Ile2242AsnfsTer11
XM_011527205.2:c.6724dup	XP_011525507.1:p.Ile2242AsnfsTer11
XR_001753735.1:n.6807dup
NM_000540.3:c.6724dup MANE Select	NP_000531.2:p.Ile2242AsnfsTer11
NM_001042723.2:c.6724dup	NP_001036188.1:p.Ile2242AsnfsTer11