Canonical Allele Identifier: CA347725576
Community Standard Title: NM_001371279.1(REEP1):c.2T>C (p.Met1Thr)
Gene: REEP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86337509A>G , CM000664.2:g.86337509A>G GRCh38
NC_000002.11:g.86564632A>G , CM000664.1:g.86564632A>G GRCh37
NC_000002.10:g.86418143A>G NCBI36
NG_013037.1:g.5575T>C , LRG_713:g.5575T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001371279.1:c.2T>C MANE Select NP_001358208.1:p.Met1Thr
ENST00000538924.7:c.2T>C MANE Select ENSP00000438346.3:p.Met1Thr
NM_001164730.1:c.53+515T>C , LRG_713t1:c.53+515T>C NP_001158202.1:n.53+515T>C
NM_001164730.2:c.53+515T>C NP_001158202.1:n.53+515T>C
NM_001164731.1:c.-7T>C NP_001158203.1:n.-7T>C
NM_001164731.2:c.-7T>C NP_001158203.1:n.-7T>C
NM_001164732.1:c.2T>C NP_001158204.1:p.Met1Thr
NM_001164732.2:c.2T>C NP_001158204.1:p.Met1Thr
NM_001371280.1:c.2T>C NP_001358209.1:p.Met1Thr
NM_022912.2:c.2T>C , LRG_713t2:c.2T>C NP_075063.1:p.Met1Thr
NM_022912.3:c.2T>C NP_075063.1:p.Met1Thr
ENST00000165698.9:c.2T>C ENSP00000165698.5:p.Met1Thr
ENST00000428491.5:c.-7T>C ENSP00000400607.1:n.-7T>C
ENST00000437769.5:c.2T>C ENSP00000401140.1:p.Met1Thr
ENST00000453231.5:c.53+515T>C ENSP00000392197.1:n.53+515T>C
ENST00000453231.6:c.53+515T>C ENSP00000392197.2:n.53+515T>C
ENST00000535845.5:c.-7T>C ENSP00000437567.1:n.-7T>C
ENST00000535845.6:c.-7T>C ENSP00000437567.1:n.-7T>C
ENST00000538924.5:c.53+515T>C ENSP00000438346.1:n.53+515T>C
ENST00000541910.5:c.2T>C ENSP00000442681.1:p.Met1Thr
ENST00000541910.6:c.2T>C ENSP00000442681.1:p.Met1Thr
ENST00000643817.2:c.2T>C ENSP00000495610.2:p.Met1Thr
ENST00000686220.1:c.-7T>C ENSP00000509904.1:n.-7T>C
ENST00000688400.1:c.2T>C ENSP00000510490.1:p.Met1Thr
ENST00000689156.1:c.2T>C ENSP00000509143.1:p.Met1Thr
ENST00000691093.1:c.-102T>C ENSP00000509465.1:n.-102T>C
ENST00000691703.1:c.2T>C ENSP00000508496.1:p.Met1Thr
ENST00000692664.1:c.2T>C ENSP00000508656.1:p.Met1Thr
ENST00000693329.1:c.2T>C ENSP00000508490.1:p.Met1Thr
XM_005264502.1:c.2T>C XP_005264559.1:p.Met1Thr
XM_005264502.2:c.2T>C XP_005264559.1:p.Met1Thr
XM_011533043.1:c.53+515T>C XP_011531345.1:n.53+515T>C
XM_011533046.1:c.53+515T>C XP_011531348.1:n.53+515T>C