Canonical Allele Identifier: CA347719942

Gene: REEP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86263981C>G , CM000664.2:g.86263981C>G	GRCh38
NC_000002.11:g.86491104C>G , CM000664.1:g.86491104C>G	GRCh37
NC_000002.10:g.86344615C>G	NCBI36
NG_013037.1:g.79103G>C , LRG_713:g.79103G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001371279.1:c.166G>C MANE Select	NP_001358208.1:p.Asp56His
ENST00000538924.7:c.166G>C MANE Select	ENSP00000438346.3:p.Asp56His
NM_001164730.1:c.187G>C , LRG_713t1:c.187G>C	NP_001158202.1:p.Asp63His
NM_001164730.2:c.187G>C	NP_001158202.1:p.Asp63His
NM_001164731.1:c.85G>C	NP_001158203.1:p.Asp29His
NM_001164731.2:c.85G>C	NP_001158203.1:p.Asp29His
NM_001164732.1:c.166G>C	NP_001158204.1:p.Asp56His
NM_001164732.2:c.166G>C	NP_001158204.1:p.Asp56His
NM_001371280.1:c.166G>C	NP_001358209.1:p.Asp56His
NM_022912.2:c.166G>C , LRG_713t2:c.166G>C	NP_075063.1:p.Asp56His
NM_022912.3:c.166G>C	NP_075063.1:p.Asp56His
ENST00000165698.9:c.166G>C	ENSP00000165698.5:p.Asp56His
ENST00000428491.5:c.85G>C	ENSP00000400607.1:p.Asp29His
ENST00000437769.5:c.166G>C	ENSP00000401140.1:p.Asp56His
ENST00000453231.5:c.187G>C	ENSP00000392197.1:p.Asp63His
ENST00000453231.6:c.187G>C	ENSP00000392197.2:p.Asp63His
ENST00000473407.5:n.256G>C
ENST00000489855.2:c.102G>C
ENST00000535845.5:c.85G>C	ENSP00000437567.1:p.Asp29His
ENST00000535845.6:c.85G>C	ENSP00000437567.1:p.Asp29His
ENST00000538924.5:c.187G>C	ENSP00000438346.1:p.Asp63His
ENST00000541910.5:c.166G>C	ENSP00000442681.1:p.Asp56His
ENST00000541910.6:c.166G>C	ENSP00000442681.1:p.Asp56His
ENST00000642243.1:c.124G>C	ENSP00000494960.1:p.Asp42His
ENST00000643817.1:c.124G>C	ENSP00000495610.1:p.Asp42His
ENST00000643817.2:c.166G>C	ENSP00000495610.2:p.Asp56His
ENST00000644644.1:c.124G>C	ENSP00000494305.1:p.Asp42His
ENST00000686220.1:c.85G>C	ENSP00000509904.1:p.Asp29His
ENST00000688400.1:c.105+18189G>C	ENSP00000510490.1:n.105+18189G>C
ENST00000689156.1:c.166G>C	ENSP00000509143.1:p.Asp56His
ENST00000691093.1:c.3-9167G>C	ENSP00000509465.1:n.3-9167G>C
ENST00000691703.1:c.166G>C	ENSP00000508496.1:p.Asp56His
ENST00000692664.1:c.33-9167G>C	ENSP00000508656.1:n.33-9167G>C
ENST00000693329.1:c.166G>C	ENSP00000508490.1:p.Asp56His
XM_005264502.1:c.166G>C	XP_005264559.1:p.Asp56His
XM_005264502.2:c.166G>C	XP_005264559.1:p.Asp56His
XM_005264504.1:c.52G>C	XP_005264561.1:p.Asp18His
XM_011533043.1:c.187G>C	XP_011531345.1:p.Asp63His
XM_011533044.1:c.148G>C	XP_011531346.1:p.Asp50His
XM_011533045.1:c.142G>C	XP_011531347.1:p.Asp48His
XM_011533045.2:c.142G>C	XP_011531347.1:p.Asp48His
XM_011533046.1:c.187G>C	XP_011531348.1:p.Asp63His
XM_017004725.1:c.187G>C	XP_016860214.1:p.Asp63His
XM_017004726.1:c.187G>C	XP_016860215.1:p.Asp63His
XM_017004727.1:c.187G>C	XP_016860216.1:p.Asp63His