Canonical Allele Identifier: CA347547760
Community Standard Title: NM_001371279.1(REEP1):c.418G>T (p.Gly140Ter)
Gene: REEP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86232802C>A , CM000664.2:g.86232802C>A GRCh38
NC_000002.11:g.86459925C>A , CM000664.1:g.86459925C>A GRCh37
NC_000002.10:g.86313436C>A NCBI36
NG_013037.1:g.110282G>T , LRG_713:g.110282G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001371279.1:c.418G>T MANE Select NP_001358208.1:p.Gly140Ter
ENST00000538924.7:c.418G>T MANE Select ENSP00000438346.3:p.Gly140Ter
NM_001164730.1:c.439G>T , LRG_713t1:c.439G>T NP_001158202.1:p.Gly147Ter
NM_001164730.2:c.439G>T NP_001158202.1:p.Gly147Ter
NM_001164731.1:c.337G>T NP_001158203.1:p.Gly113Ter
NM_001164731.2:c.337G>T NP_001158203.1:p.Gly113Ter
NM_001164732.1:c.183G>T NP_001158204.1:p.Trp61Cys
NM_001164732.2:c.183G>T NP_001158204.1:p.Trp61Cys
NM_001371280.1:c.418-15692G>T NP_001358209.1:n.418-15692G>T
NM_022912.2:c.418G>T , LRG_713t2:c.418G>T NP_075063.1:p.Gly140Ter
NM_022912.3:c.418G>T NP_075063.1:p.Gly140Ter
ENST00000165698.9:c.418G>T ENSP00000165698.5:p.Gly140Ter
ENST00000428491.5:c.337G>T ENSP00000400607.1:p.Gly113Ter
ENST00000437769.5:c.183G>T ENSP00000401140.1:p.Trp61Cys
ENST00000453231.5:c.439G>T ENSP00000392197.1:p.Gly147Ter
ENST00000453231.6:c.439G>T ENSP00000392197.2:p.Gly147Ter
ENST00000473407.5:n.508G>T
ENST00000490915.5:n.440G>T
ENST00000535845.5:c.337G>T ENSP00000437567.1:p.Gly113Ter
ENST00000535845.6:c.337G>T ENSP00000437567.1:p.Gly113Ter
ENST00000538924.5:c.439G>T ENSP00000438346.1:p.Gly147Ter
ENST00000541910.5:c.183G>T ENSP00000442681.1:p.Trp61Cys
ENST00000541910.6:c.183G>T ENSP00000442681.1:p.Trp61Cys
ENST00000642243.1:c.526G>T ENSP00000494960.1:p.Gly176Ter
ENST00000643817.1:c.376G>T ENSP00000495610.1:p.Gly126Ter
ENST00000643817.2:c.418G>T ENSP00000495610.2:p.Gly140Ter
ENST00000644644.1:c.427G>T ENSP00000494305.1:p.Gly143Ter
ENST00000686220.1:c.337G>T ENSP00000509904.1:p.Gly113Ter
ENST00000688400.1:c.106G>T ENSP00000510490.1:p.Gly36Ter
ENST00000689156.1:c.418-15692G>T ENSP00000509143.1:n.418-15692G>T
ENST00000691093.1:c.238G>T ENSP00000509465.1:p.Gly80Ter
ENST00000691703.1:c.418G>T ENSP00000508496.1:p.Gly140Ter
ENST00000692664.1:c.268G>T ENSP00000508656.1:p.Gly90Ter
ENST00000693329.1:c.418G>T ENSP00000508490.1:p.Gly140Ter
XM_005264502.1:c.418G>T XP_005264559.1:p.Gly140Ter
XM_005264502.2:c.418G>T XP_005264559.1:p.Gly140Ter
XM_005264504.1:c.304G>T XP_005264561.1:p.Gly102Ter
XM_011533043.1:c.439G>T XP_011531345.1:p.Gly147Ter
XM_011533044.1:c.400G>T XP_011531346.1:p.Gly134Ter
XM_011533045.1:c.394G>T XP_011531347.1:p.Gly132Ter
XM_011533045.2:c.394G>T XP_011531347.1:p.Gly132Ter
XM_011533046.1:c.439G>T XP_011531348.1:p.Gly147Ter
XM_017004725.1:c.439G>T XP_016860214.1:p.Gly147Ter
XM_017004726.1:c.439G>T XP_016860215.1:p.Gly147Ter
XM_017004727.1:c.439G>T XP_016860216.1:p.Gly147Ter