Canonical Allele Identifier: CA1139666435

Gene: RYR1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580448_38580450del , CM000681.2:g.38580448_38580450del	GRCh38
NC_000019.9:g.39071088_39071090del , CM000681.1:g.39071088_39071090del	GRCh37
NC_000019.8:g.43762928_43762930del	NCBI36
NG_008866.1:g.151749_151751del , LRG_766:g.151749_151751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1526_1528del
ENST00000688602.1:c.2923_2925del
ENST00000689936.1:c.2895_2897del
ENST00000359596.8:c.14590_14592del MANE Select	ENSP00000352608.2:p.Tyr4864del
ENST00000355481.8:c.14575_14577del	ENSP00000347667.3:p.Tyr4859del
ENST00000359596.7:c.14590_14592del	ENSP00000352608.2:p.Tyr4864del
ENST00000360985.7:c.14572_14574del	ENSP00000354254.4:p.Tyr4858del
NM_000540.2:c.14590_14592del , LRG_766t1:c.14590_14592del	NP_000531.2:p.Tyr4864del
NM_001042723.1:c.14575_14577del	NP_001036188.1:p.Tyr4859del
XM_006723317.1:c.14572_14574del	XP_006723380.1:p.Tyr4858del
XM_006723319.1:c.14557_14559del	XP_006723382.1:p.Tyr4853del
XM_011527204.1:c.14587_14589del	XP_011525506.1:p.Tyr4863del
XM_011527205.1:c.14503_14505del	XP_011525507.1:p.Tyr4835del
XM_006723317.2:c.14572_14574del	XP_006723380.1:p.Tyr4858del
XM_006723319.2:c.14557_14559del	XP_006723382.1:p.Tyr4853del
XM_011527205.2:c.14503_14505del	XP_011525507.1:p.Tyr4835del
NM_000540.3:c.14590_14592del MANE Select	NP_000531.2:p.Tyr4864del
NM_001042723.2:c.14575_14577del	NP_001036188.1:p.Tyr4859del