Canonical Allele Identifier: CA2499216291

Gene: REEP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86263960C>G , CM000664.2:g.86263960C>G	GRCh38
NC_000002.11:g.86491083C>G , CM000664.1:g.86491083C>G	GRCh37
NC_000002.10:g.86344594C>G	NCBI36
NG_013037.1:g.79124G>C , LRG_713:g.79124G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001371279.1:c.182+5G>C MANE Select	NP_001358208.1:n.182+5G>C
ENST00000538924.7:c.182+5G>C MANE Select	ENSP00000438346.3:n.182+5G>C
NM_001164730.1:c.203+5G>C , LRG_713t1:c.203+5G>C	NP_001158202.1:n.203+5G>C
NM_001164730.2:c.203+5G>C	NP_001158202.1:n.203+5G>C
NM_001164731.1:c.101+5G>C	NP_001158203.1:n.101+5G>C
NM_001164731.2:c.101+5G>C	NP_001158203.1:n.101+5G>C
NM_001164732.1:c.182+5G>C	NP_001158204.1:n.182+5G>C
NM_001164732.2:c.182+5G>C	NP_001158204.1:n.182+5G>C
NM_001371280.1:c.182+5G>C	NP_001358209.1:n.182+5G>C
NM_022912.2:c.182+5G>C , LRG_713t2:c.182+5G>C	NP_075063.1:n.182+5G>C
NM_022912.3:c.182+5G>C	NP_075063.1:n.182+5G>C
ENST00000165698.9:c.182+5G>C	ENSP00000165698.5:n.182+5G>C
ENST00000428491.5:c.101+5G>C	ENSP00000400607.1:n.101+5G>C
ENST00000437769.5:c.182+5G>C	ENSP00000401140.1:n.182+5G>C
ENST00000453231.5:c.203+5G>C	ENSP00000392197.1:n.203+5G>C
ENST00000453231.6:c.203+5G>C	ENSP00000392197.2:n.203+5G>C
ENST00000473407.5:n.272+5G>C
ENST00000489855.2:c.118+5G>C
ENST00000535845.5:c.101+5G>C	ENSP00000437567.1:n.101+5G>C
ENST00000535845.6:c.101+5G>C	ENSP00000437567.1:n.101+5G>C
ENST00000538924.5:c.203+5G>C	ENSP00000438346.1:n.203+5G>C
ENST00000541910.5:c.182+5G>C	ENSP00000442681.1:n.182+5G>C
ENST00000541910.6:c.182+5G>C	ENSP00000442681.1:n.182+5G>C
ENST00000642243.1:c.140+5G>C	ENSP00000494960.1:n.140+5G>C
ENST00000643817.1:c.140+5G>C	ENSP00000495610.1:n.140+5G>C
ENST00000643817.2:c.182+5G>C	ENSP00000495610.2:n.182+5G>C
ENST00000644644.1:c.140+5G>C	ENSP00000494305.1:n.140+5G>C
ENST00000686220.1:c.101+5G>C	ENSP00000509904.1:n.101+5G>C
ENST00000688400.1:c.105+18210G>C	ENSP00000510490.1:n.105+18210G>C
ENST00000689156.1:c.182+5G>C	ENSP00000509143.1:n.182+5G>C
ENST00000691093.1:c.3-9146G>C	ENSP00000509465.1:n.3-9146G>C
ENST00000691703.1:c.182+5G>C	ENSP00000508496.1:n.182+5G>C
ENST00000692664.1:c.33-9146G>C	ENSP00000508656.1:n.33-9146G>C
ENST00000693329.1:c.182+5G>C	ENSP00000508490.1:n.182+5G>C
XM_005264502.1:c.182+5G>C	XP_005264559.1:n.182+5G>C
XM_005264502.2:c.182+5G>C	XP_005264559.1:n.182+5G>C
XM_005264504.1:c.68+5G>C	XP_005264561.1:n.68+5G>C
XM_011533043.1:c.203+5G>C	XP_011531345.1:n.203+5G>C
XM_011533044.1:c.164+5G>C	XP_011531346.1:n.164+5G>C
XM_011533045.1:c.158+5G>C	XP_011531347.1:n.158+5G>C
XM_011533045.2:c.158+5G>C	XP_011531347.1:n.158+5G>C
XM_011533046.1:c.203+5G>C	XP_011531348.1:n.203+5G>C
XM_017004725.1:c.203+5G>C	XP_016860214.1:n.203+5G>C
XM_017004726.1:c.203+5G>C	XP_016860215.1:n.203+5G>C
XM_017004727.1:c.203+5G>C	XP_016860216.1:n.203+5G>C