Canonical Allele Identifier: CA347722751
Community Standard Title: NM_001371279.1(REEP1):c.44G>T (p.Gly15Val)
Gene: REEP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86282231C>A , CM000664.2:g.86282231C>A GRCh38
NC_000002.11:g.86509354C>A , CM000664.1:g.86509354C>A GRCh37
NC_000002.10:g.86362865C>A NCBI36
NG_013037.1:g.60853G>T , LRG_713:g.60853G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001371279.1:c.44G>T MANE Select NP_001358208.1:p.Gly15Val
ENST00000538924.7:c.44G>T MANE Select ENSP00000438346.3:p.Gly15Val
NM_001164730.1:c.65G>T , LRG_713t1:c.65G>T NP_001158202.1:p.Gly22Val
NM_001164730.2:c.65G>T NP_001158202.1:p.Gly22Val
NM_001164731.1:c.25-18190G>T NP_001158203.1:n.25-18190G>T
NM_001164731.2:c.25-18190G>T NP_001158203.1:n.25-18190G>T
NM_001164732.1:c.44G>T NP_001158204.1:p.Gly15Val
NM_001164732.2:c.44G>T NP_001158204.1:p.Gly15Val
NM_001371280.1:c.44G>T NP_001358209.1:p.Gly15Val
NM_022912.2:c.44G>T , LRG_713t2:c.44G>T NP_075063.1:p.Gly15Val
NM_022912.3:c.44G>T NP_075063.1:p.Gly15Val
ENST00000165698.9:c.44G>T ENSP00000165698.5:p.Gly15Val
ENST00000428491.5:c.25-18190G>T ENSP00000400607.1:n.25-18190G>T
ENST00000437769.5:c.44G>T ENSP00000401140.1:p.Gly15Val
ENST00000453231.5:c.65G>T ENSP00000392197.1:p.Gly22Val
ENST00000453231.6:c.65G>T ENSP00000392197.2:p.Gly22Val
ENST00000473407.5:n.134G>T
ENST00000475475.1:n.356G>T
ENST00000535845.5:c.25-18190G>T ENSP00000437567.1:n.25-18190G>T
ENST00000535845.6:c.25-18190G>T ENSP00000437567.1:n.25-18190G>T
ENST00000538924.5:c.65G>T ENSP00000438346.1:p.Gly22Val
ENST00000541910.5:c.44G>T ENSP00000442681.1:p.Gly15Val
ENST00000541910.6:c.44G>T ENSP00000442681.1:p.Gly15Val
ENST00000642243.1:c.2G>T ENSP00000494960.1:p.Gly1Val
ENST00000643817.1:c.2G>T ENSP00000495610.1:p.Gly1Val
ENST00000643817.2:c.44G>T ENSP00000495610.2:p.Gly15Val
ENST00000644644.1:c.2G>T ENSP00000494305.1:p.Gly1Val
ENST00000686220.1:c.25-18190G>T ENSP00000509904.1:n.25-18190G>T
ENST00000688400.1:c.44G>T ENSP00000510490.1:p.Gly15Val
ENST00000689156.1:c.44G>T ENSP00000509143.1:p.Gly15Val
ENST00000691093.1:c.-60G>T ENSP00000509465.1:n.-60G>T
ENST00000691703.1:c.44G>T ENSP00000508496.1:p.Gly15Val
ENST00000692664.1:c.33-27417G>T ENSP00000508656.1:n.33-27417G>T
ENST00000693329.1:c.44G>T ENSP00000508490.1:p.Gly15Val
XM_005264502.1:c.44G>T XP_005264559.1:p.Gly15Val
XM_005264502.2:c.44G>T XP_005264559.1:p.Gly15Val
XM_005264504.1:c.-71G>T XP_005264561.1:n.-71G>T
XM_011533043.1:c.65G>T XP_011531345.1:p.Gly22Val
XM_011533044.1:c.26G>T XP_011531346.1:p.Gly9Val
XM_011533045.1:c.20G>T XP_011531347.1:p.Gly7Val
XM_011533045.2:c.20G>T XP_011531347.1:p.Gly7Val
XM_011533046.1:c.65G>T XP_011531348.1:p.Gly22Val
XM_017004725.1:c.65G>T XP_016860214.1:p.Gly22Val
XM_017004726.1:c.65G>T XP_016860215.1:p.Gly22Val
XM_017004727.1:c.65G>T XP_016860216.1:p.Gly22Val