Canonical Allele Identifier: CA347717200

Gene: REEP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86254737A>C , CM000664.2:g.86254737A>C	GRCh38
NC_000002.11:g.86481860A>C , CM000664.1:g.86481860A>C	GRCh37
NC_000002.10:g.86335371A>C	NCBI36
NG_013037.1:g.88347T>G , LRG_713:g.88347T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001371279.1:c.260T>G MANE Select	NP_001358208.1:p.Leu87Arg
ENST00000538924.7:c.260T>G MANE Select	ENSP00000438346.3:p.Leu87Arg
NM_001164730.1:c.281T>G , LRG_713t1:c.281T>G	NP_001158202.1:p.Leu94Arg
NM_001164730.2:c.281T>G	NP_001158202.1:p.Leu94Arg
NM_001164731.1:c.179T>G	NP_001158203.1:p.Leu60Arg
NM_001164731.2:c.179T>G	NP_001158203.1:p.Leu60Arg
NM_001164732.1:c.182+9228T>G	NP_001158204.1:n.182+9228T>G
NM_001164732.2:c.182+9228T>G	NP_001158204.1:n.182+9228T>G
NM_001371280.1:c.260T>G	NP_001358209.1:p.Leu87Arg
NM_022912.2:c.260T>G , LRG_713t2:c.260T>G	NP_075063.1:p.Leu87Arg
NM_022912.3:c.260T>G	NP_075063.1:p.Leu87Arg
ENST00000165698.9:c.260T>G	ENSP00000165698.5:p.Leu87Arg
ENST00000428491.5:c.179T>G	ENSP00000400607.1:p.Leu60Arg
ENST00000437769.5:c.182+9228T>G	ENSP00000401140.1:n.182+9228T>G
ENST00000453231.5:c.281T>G	ENSP00000392197.1:p.Leu94Arg
ENST00000453231.6:c.281T>G	ENSP00000392197.2:p.Leu94Arg
ENST00000473407.5:n.350T>G
ENST00000489855.2:c.196T>G
ENST00000490915.5:n.282T>G
ENST00000535845.5:c.179T>G	ENSP00000437567.1:p.Leu60Arg
ENST00000535845.6:c.179T>G	ENSP00000437567.1:p.Leu60Arg
ENST00000538924.5:c.281T>G	ENSP00000438346.1:p.Leu94Arg
ENST00000541910.5:c.182+9228T>G	ENSP00000442681.1:n.182+9228T>G
ENST00000541910.6:c.182+9228T>G	ENSP00000442681.1:n.182+9228T>G
ENST00000642243.1:c.218T>G	ENSP00000494960.1:p.Leu73Arg
ENST00000643817.1:c.218T>G	ENSP00000495610.1:p.Leu73Arg
ENST00000643817.2:c.260T>G	ENSP00000495610.2:p.Leu87Arg
ENST00000644644.1:c.218T>G	ENSP00000494305.1:p.Leu73Arg
ENST00000686220.1:c.179T>G	ENSP00000509904.1:p.Leu60Arg
ENST00000688400.1:c.106-21935T>G	ENSP00000510490.1:n.106-21935T>G
ENST00000689156.1:c.260T>G	ENSP00000509143.1:p.Leu87Arg
ENST00000691093.1:c.80T>G	ENSP00000509465.1:p.Leu27Arg
ENST00000691703.1:c.260T>G	ENSP00000508496.1:p.Leu87Arg
ENST00000692664.1:c.110T>G	ENSP00000508656.1:p.Leu37Arg
ENST00000693329.1:c.260T>G	ENSP00000508490.1:p.Leu87Arg
XM_005264502.1:c.260T>G	XP_005264559.1:p.Leu87Arg
XM_005264502.2:c.260T>G	XP_005264559.1:p.Leu87Arg
XM_005264504.1:c.146T>G	XP_005264561.1:p.Leu49Arg
XM_011533043.1:c.281T>G	XP_011531345.1:p.Leu94Arg
XM_011533044.1:c.242T>G	XP_011531346.1:p.Leu81Arg
XM_011533045.1:c.236T>G	XP_011531347.1:p.Leu79Arg
XM_011533045.2:c.236T>G	XP_011531347.1:p.Leu79Arg
XM_011533046.1:c.281T>G	XP_011531348.1:p.Leu94Arg
XM_017004725.1:c.281T>G	XP_016860214.1:p.Leu94Arg
XM_017004726.1:c.281T>G	XP_016860215.1:p.Leu94Arg
XM_017004727.1:c.281T>G	XP_016860216.1:p.Leu94Arg