Canonical Allele Identifier: CA1267127146

Gene: REEP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217050_86217051delinsCG , CM000664.2:g.86217050_86217051delinsCG	GRCh38
NC_000002.11:g.86444173_86444174delinsCG , CM000664.1:g.86444173_86444174delinsCG	GRCh37
NC_000002.10:g.86297684_86297685delinsCG	NCBI36
NG_013037.1:g.126033_126034delinsCG , LRG_713:g.126033_126034delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000643817.2:c.807_808delinsCG	ENSP00000495610.2:p.Thr269=
ENST00000686220.1:c.*103_*104delinsCG	ENSP00000509904.1:n.*103_*104delinsCG
ENST00000687696.1:n.185_186delinsCG
ENST00000687927.1:n.1121_1122delinsCG
ENST00000688400.1:c.343_344delinsCG	ENSP00000510490.1:n.343_344delinsCG
ENST00000689156.1:c.477_478delinsCG	ENSP00000509143.1:p.Thr159=
ENST00000691093.1:c.*49_*50delinsCG	ENSP00000509465.1:n.*49_*50delinsCG
ENST00000691703.1:c.*49_*50delinsCG	ENSP00000508496.1:n.*49_*50delinsCG
ENST00000692664.1:c.*49_*50delinsCG	ENSP00000508656.1:n.*49_*50delinsCG
ENST00000693329.1:c.*129_*130delinsCG	ENSP00000508490.1:n.*129_*130delinsCG
ENST00000453231.6:c.*49_*50delinsCG	ENSP00000392197.2:n.*49_*50delinsCG
ENST00000535845.6:c.*49_*50delinsCG	ENSP00000437567.1:n.*49_*50delinsCG
ENST00000538924.7:c.843_844delinsCG MANE Select	ENSP00000438346.3:p.Thr281=
ENST00000541910.6:c.420_421delinsCG	ENSP00000442681.1:p.Thr140=
ENST00000642243.1:c.951_952delinsCG	ENSP00000494960.1:p.Thr317=
ENST00000643817.1:c.765_766delinsCG	ENSP00000495610.1:p.Thr255=
ENST00000644644.1:c.852_853delinsCG	ENSP00000494305.1:p.Thr284=
ENST00000646181.1:n.528_529delinsCG
ENST00000165698.9:c.*49_*50delinsCG	ENSP00000165698.5:n.*49_*50delinsCG
ENST00000535845.5:c.*49_*50delinsCG	ENSP00000437567.1:n.*49_*50delinsCG
ENST00000538924.5:c.*49_*50delinsCG	ENSP00000438346.1:n.*49_*50delinsCG
ENST00000541910.5:c.420_421delinsCG	ENSP00000442681.1:p.Thr140=
NM_001164730.1:c.*49_*50delinsCG , LRG_713t1:c.*49_*50delinsCG	NP_001158202.1:n.*49_*50delinsCG
NM_001164731.1:c.*49_*50delinsCG	NP_001158203.1:n.*49_*50delinsCG
NM_001164732.1:c.420_421delinsCG	NP_001158204.1:p.Thr140=
NM_022912.2:c.*49_*50delinsCG , LRG_713t2:c.*49_*50delinsCG	NP_075063.1:n.*49_*50delinsCG
XM_005264502.1:c.843_844delinsCG	XP_005264559.1:p.Thr281=
XM_005264504.1:c.729_730delinsCG	XP_005264561.1:p.Thr243=
XM_011533043.1:c.828_829delinsCG	XP_011531345.1:p.Thr276=
XM_011533044.1:c.825_826delinsCG	XP_011531346.1:p.Thr275=
XM_011533045.1:c.819_820delinsCG	XP_011531347.1:p.Thr273=
XM_011533046.1:c.*49_*50delinsCG	XP_011531348.1:n.*49_*50delinsCG
XM_005264502.2:c.843_844delinsCG	XP_005264559.1:p.Thr281=
XM_011533045.2:c.819_820delinsCG	XP_011531347.1:p.Thr273=
XM_017004725.1:c.828_829delinsCG	XP_016860214.1:p.Thr276=
XM_017004726.1:c.*49_*50delinsCG	XP_016860215.1:n.*49_*50delinsCG
XM_017004727.1:c.*49_*50delinsCG	XP_016860216.1:n.*49_*50delinsCG
NM_001164730.2:c.*49_*50delinsCG	NP_001158202.1:n.*49_*50delinsCG
NM_001164731.2:c.*49_*50delinsCG	NP_001158203.1:n.*49_*50delinsCG
NM_001164732.2:c.420_421delinsCG	NP_001158204.1:p.Thr140=
NM_001371279.1:c.843_844delinsCG MANE Select	NP_001358208.1:p.Thr281=
NM_001371280.1:c.477_478delinsCG	NP_001358209.1:p.Thr159=
NM_022912.3:c.*49_*50delinsCG	NP_075063.1:n.*49_*50delinsCG