Canonical Allele Identifier: CA2584909130

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565227-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565229del , CM000681.2:g.38565229del	GRCh38
NC_000019.9:g.39055869del , CM000681.1:g.39055869del	GRCh37
NC_000019.8:g.43747709del	NCBI36
NG_008866.1:g.136530del , LRG_766:g.136530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1305del
ENST00000689936.1:c.1287del
ENST00000359596.8:c.12895del MANE Select	ENSP00000352608.2:p.Ala4299ArgfsTer?
ENST00000355481.8:c.12880del	ENSP00000347667.3:p.Ala4294ArgfsTer?
ENST00000359596.7:c.12895del	ENSP00000352608.2:p.Ala4299ArgfsTer?
ENST00000360985.7:c.12877del	ENSP00000354254.4:p.Ala4293ArgfsTer?
NM_000540.2:c.12895del , LRG_766t1:c.12895del	NP_000531.2:p.Ala4299ArgfsTer?
NM_001042723.1:c.12880del	NP_001036188.1:p.Ala4294ArgfsTer?
XM_006723317.1:c.12877del	XP_006723380.1:p.Ala4293ArgfsTer?
XM_006723319.1:c.12862del	XP_006723382.1:p.Ala4288ArgfsTer?
XM_011527204.1:c.12892del	XP_011525506.1:p.Ala4298ArgfsTer?
XM_011527205.1:c.12895del	XP_011525507.1:p.Ala4299ArgfsTer?
XM_006723317.2:c.12877del	XP_006723380.1:p.Ala4293ArgfsTer?
XM_006723319.2:c.12862del	XP_006723382.1:p.Ala4288ArgfsTer?
XM_011527205.2:c.12895del	XP_011525507.1:p.Ala4299ArgfsTer?
NM_000540.3:c.12895del MANE Select	NP_000531.2:p.Ala4299ArgfsTer?
NM_001042723.2:c.12880del	NP_001036188.1:p.Ala4294ArgfsTer?