Canonical Allele Identifier: CA347544132

Gene: REEP1

Linked Data

• MyVariant Identifiers: chr2:g.86444173C>G (hg19) ; chr2:g.86217050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217050C>G , CM000664.2:g.86217050C>G	GRCh38
NC_000002.11:g.86444173C>G , CM000664.1:g.86444173C>G	GRCh37
NC_000002.10:g.86297684C>G	NCBI36
NG_013037.1:g.126034G>C , LRG_713:g.126034G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643817.2:c.808G>C	ENSP00000495610.2:p.Glu270Gln
ENST00000686220.1:c.*104G>C	ENSP00000509904.1:n.*104G>C
ENST00000687696.1:n.186G>C
ENST00000687927.1:n.1122G>C
ENST00000688400.1:c.344G>C	ENSP00000510490.1:n.344G>C
ENST00000689156.1:c.478G>C	ENSP00000509143.1:p.Glu160Gln
ENST00000691093.1:c.*50G>C	ENSP00000509465.1:n.*50G>C
ENST00000691703.1:c.*50G>C	ENSP00000508496.1:n.*50G>C
ENST00000692664.1:c.*50G>C	ENSP00000508656.1:n.*50G>C
ENST00000693329.1:c.*130G>C	ENSP00000508490.1:n.*130G>C
ENST00000453231.6:c.*50G>C	ENSP00000392197.2:n.*50G>C
ENST00000535845.6:c.*50G>C	ENSP00000437567.1:n.*50G>C
ENST00000538924.7:c.844G>C MANE Select	ENSP00000438346.3:p.Glu282Gln
ENST00000541910.6:c.421G>C	ENSP00000442681.1:p.Glu141Gln
ENST00000642243.1:c.952G>C	ENSP00000494960.1:p.Glu318Gln
ENST00000643817.1:c.766G>C	ENSP00000495610.1:p.Glu256Gln
ENST00000644644.1:c.853G>C	ENSP00000494305.1:p.Glu285Gln
ENST00000646181.1:n.529G>C
ENST00000165698.9:c.*50G>C	ENSP00000165698.5:n.*50G>C
ENST00000535845.5:c.*50G>C	ENSP00000437567.1:n.*50G>C
ENST00000538924.5:c.*50G>C	ENSP00000438346.1:n.*50G>C
ENST00000541910.5:c.421G>C	ENSP00000442681.1:p.Glu141Gln
NM_001164730.1:c.*50G>C , LRG_713t1:c.*50G>C	NP_001158202.1:n.*50G>C
NM_001164731.1:c.*50G>C	NP_001158203.1:n.*50G>C
NM_001164732.1:c.421G>C	NP_001158204.1:p.Glu141Gln
NM_022912.2:c.*50G>C , LRG_713t2:c.*50G>C	NP_075063.1:n.*50G>C
XM_005264502.1:c.844G>C	XP_005264559.1:p.Glu282Gln
XM_005264504.1:c.730G>C	XP_005264561.1:p.Glu244Gln
XM_011533043.1:c.829G>C	XP_011531345.1:p.Glu277Gln
XM_011533044.1:c.826G>C	XP_011531346.1:p.Glu276Gln
XM_011533045.1:c.820G>C	XP_011531347.1:p.Glu274Gln
XM_011533046.1:c.*50G>C	XP_011531348.1:n.*50G>C
XM_005264502.2:c.844G>C	XP_005264559.1:p.Glu282Gln
XM_011533045.2:c.820G>C	XP_011531347.1:p.Glu274Gln
XM_017004725.1:c.829G>C	XP_016860214.1:p.Glu277Gln
XM_017004726.1:c.*50G>C	XP_016860215.1:n.*50G>C
XM_017004727.1:c.*50G>C	XP_016860216.1:n.*50G>C
NM_001164730.2:c.*50G>C	NP_001158202.1:n.*50G>C
NM_001164731.2:c.*50G>C	NP_001158203.1:n.*50G>C
NM_001164732.2:c.421G>C	NP_001158204.1:p.Glu141Gln
NM_001371279.1:c.844G>C MANE Select	NP_001358208.1:p.Glu282Gln
NM_001371280.1:c.478G>C	NP_001358209.1:p.Glu160Gln
NM_022912.3:c.*50G>C	NP_075063.1:n.*50G>C