Canonical Allele Identifier: CA347717453

Gene: REEP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86254773C>T , CM000664.2:g.86254773C>T	GRCh38
NC_000002.11:g.86481896C>T , CM000664.1:g.86481896C>T	GRCh37
NC_000002.10:g.86335407C>T	NCBI36
NG_013037.1:g.88311G>A , LRG_713:g.88311G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001371279.1:c.224G>A MANE Select	NP_001358208.1:p.Trp75Ter
ENST00000538924.7:c.224G>A MANE Select	ENSP00000438346.3:p.Trp75Ter
NM_001164730.1:c.245G>A , LRG_713t1:c.245G>A	NP_001158202.1:p.Trp82Ter
NM_001164730.2:c.245G>A	NP_001158202.1:p.Trp82Ter
NM_001164731.1:c.143G>A	NP_001158203.1:p.Trp48Ter
NM_001164731.2:c.143G>A	NP_001158203.1:p.Trp48Ter
NM_001164732.1:c.182+9192G>A	NP_001158204.1:n.182+9192G>A
NM_001164732.2:c.182+9192G>A	NP_001158204.1:n.182+9192G>A
NM_001371280.1:c.224G>A	NP_001358209.1:p.Trp75Ter
NM_022912.2:c.224G>A , LRG_713t2:c.224G>A	NP_075063.1:p.Trp75Ter
NM_022912.3:c.224G>A	NP_075063.1:p.Trp75Ter
ENST00000165698.9:c.224G>A	ENSP00000165698.5:p.Trp75Ter
ENST00000428491.5:c.143G>A	ENSP00000400607.1:p.Trp48Ter
ENST00000437769.5:c.182+9192G>A	ENSP00000401140.1:n.182+9192G>A
ENST00000453231.5:c.245G>A	ENSP00000392197.1:p.Trp82Ter
ENST00000453231.6:c.245G>A	ENSP00000392197.2:p.Trp82Ter
ENST00000473407.5:n.314G>A
ENST00000489855.2:c.160G>A
ENST00000490915.5:n.246G>A
ENST00000535845.5:c.143G>A	ENSP00000437567.1:p.Trp48Ter
ENST00000535845.6:c.143G>A	ENSP00000437567.1:p.Trp48Ter
ENST00000538924.5:c.245G>A	ENSP00000438346.1:p.Trp82Ter
ENST00000541910.5:c.182+9192G>A	ENSP00000442681.1:n.182+9192G>A
ENST00000541910.6:c.182+9192G>A	ENSP00000442681.1:n.182+9192G>A
ENST00000642243.1:c.182G>A	ENSP00000494960.1:p.Trp61Ter
ENST00000643817.1:c.182G>A	ENSP00000495610.1:p.Trp61Ter
ENST00000643817.2:c.224G>A	ENSP00000495610.2:p.Trp75Ter
ENST00000644644.1:c.182G>A	ENSP00000494305.1:p.Trp61Ter
ENST00000686220.1:c.143G>A	ENSP00000509904.1:p.Trp48Ter
ENST00000688400.1:c.106-21971G>A	ENSP00000510490.1:n.106-21971G>A
ENST00000689156.1:c.224G>A	ENSP00000509143.1:p.Trp75Ter
ENST00000691093.1:c.44G>A	ENSP00000509465.1:p.Trp15Ter
ENST00000691703.1:c.224G>A	ENSP00000508496.1:p.Trp75Ter
ENST00000692664.1:c.74G>A	ENSP00000508656.1:p.Trp25Ter
ENST00000693329.1:c.224G>A	ENSP00000508490.1:p.Trp75Ter
XM_005264502.1:c.224G>A	XP_005264559.1:p.Trp75Ter
XM_005264502.2:c.224G>A	XP_005264559.1:p.Trp75Ter
XM_005264504.1:c.110G>A	XP_005264561.1:p.Trp37Ter
XM_011533043.1:c.245G>A	XP_011531345.1:p.Trp82Ter
XM_011533044.1:c.206G>A	XP_011531346.1:p.Trp69Ter
XM_011533045.1:c.200G>A	XP_011531347.1:p.Trp67Ter
XM_011533045.2:c.200G>A	XP_011531347.1:p.Trp67Ter
XM_011533046.1:c.245G>A	XP_011531348.1:p.Trp82Ter
XM_017004725.1:c.245G>A	XP_016860214.1:p.Trp82Ter
XM_017004726.1:c.245G>A	XP_016860215.1:p.Trp82Ter
XM_017004727.1:c.245G>A	XP_016860216.1:p.Trp82Ter