Canonical Allele Identifier: CA081317

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585087del , CM000681.2:g.38585087del	GRCh38
NC_000019.9:g.39075727del , CM000681.1:g.39075727del	GRCh37
NC_000019.8:g.43767567del	NCBI36
NG_008866.1:g.156388del , LRG_766:g.156388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1727del
ENST00000688602.1:c.3124del
ENST00000689936.1:c.3096del
ENST00000692547.1:n.184del
ENST00000359596.8:c.14791del MANE Select	ENSP00000352608.2:p.Ala4931ProfsTer6
ENST00000355481.8:c.14776del	ENSP00000347667.3:p.Ala4926ProfsTer6
ENST00000359596.7:c.14791del	ENSP00000352608.2:p.Ala4931ProfsTer6
ENST00000360985.7:c.14773del	ENSP00000354254.4:p.Ala4925ProfsTer6
NM_000540.2:c.14791del , LRG_766t1:c.14791del	NP_000531.2:p.Ala4931ProfsTer6
NM_001042723.1:c.14776del	NP_001036188.1:p.Ala4926ProfsTer6
XM_006723317.1:c.14773del	XP_006723380.1:p.Ala4925ProfsTer6
XM_006723319.1:c.14758del	XP_006723382.1:p.Ala4920ProfsTer6
XM_011527204.1:c.14788del	XP_011525506.1:p.Ala4930ProfsTer6
XM_011527205.1:c.14704del	XP_011525507.1:p.Ala4902ProfsTer6
XM_006723317.2:c.14773del	XP_006723380.1:p.Ala4925ProfsTer6
XM_006723319.2:c.14758del	XP_006723382.1:p.Ala4920ProfsTer6
XM_011527205.2:c.14704del	XP_011525507.1:p.Ala4902ProfsTer6
NM_000540.3:c.14791del MANE Select	NP_000531.2:p.Ala4931ProfsTer6
NM_001042723.2:c.14776del	NP_001036188.1:p.Ala4926ProfsTer6