Canonical Allele Identifier: CA347716881

Gene: REEP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86254692A>G , CM000664.2:g.86254692A>G	GRCh38
NC_000002.11:g.86481815A>G , CM000664.1:g.86481815A>G	GRCh37
NC_000002.10:g.86335326A>G	NCBI36
NG_013037.1:g.88392T>C , LRG_713:g.88392T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001371279.1:c.303+2T>C MANE Select	NP_001358208.1:n.303+2T>C
ENST00000538924.7:c.303+2T>C MANE Select	ENSP00000438346.3:n.303+2T>C
NM_001164730.1:c.324+2T>C , LRG_713t1:c.324+2T>C	NP_001158202.1:n.324+2T>C
NM_001164730.2:c.324+2T>C	NP_001158202.1:n.324+2T>C
NM_001164731.1:c.222+2T>C	NP_001158203.1:n.222+2T>C
NM_001164731.2:c.222+2T>C	NP_001158203.1:n.222+2T>C
NM_001164732.1:c.182+9273T>C	NP_001158204.1:n.182+9273T>C
NM_001164732.2:c.182+9273T>C	NP_001158204.1:n.182+9273T>C
NM_001371280.1:c.303+2T>C	NP_001358209.1:n.303+2T>C
NM_022912.2:c.303+2T>C , LRG_713t2:c.303+2T>C	NP_075063.1:n.303+2T>C
NM_022912.3:c.303+2T>C	NP_075063.1:n.303+2T>C
ENST00000165698.9:c.303+2T>C	ENSP00000165698.5:n.303+2T>C
ENST00000428491.5:c.222+2T>C	ENSP00000400607.1:n.222+2T>C
ENST00000437769.5:c.182+9273T>C	ENSP00000401140.1:n.182+9273T>C
ENST00000453231.5:c.324+2T>C	ENSP00000392197.1:n.324+2T>C
ENST00000453231.6:c.324+2T>C	ENSP00000392197.2:n.324+2T>C
ENST00000473407.5:n.393+2T>C
ENST00000489855.2:c.239+2T>C
ENST00000490915.5:n.325+2T>C
ENST00000535845.5:c.222+2T>C	ENSP00000437567.1:n.222+2T>C
ENST00000535845.6:c.222+2T>C	ENSP00000437567.1:n.222+2T>C
ENST00000538924.5:c.324+2T>C	ENSP00000438346.1:n.324+2T>C
ENST00000541910.5:c.182+9273T>C	ENSP00000442681.1:n.182+9273T>C
ENST00000541910.6:c.182+9273T>C	ENSP00000442681.1:n.182+9273T>C
ENST00000642243.1:c.261+2T>C	ENSP00000494960.1:n.261+2T>C
ENST00000643817.1:c.261+2T>C	ENSP00000495610.1:n.261+2T>C
ENST00000643817.2:c.303+2T>C	ENSP00000495610.2:n.303+2T>C
ENST00000644644.1:c.261+2T>C	ENSP00000494305.1:n.261+2T>C
ENST00000686220.1:c.222+2T>C	ENSP00000509904.1:n.222+2T>C
ENST00000688400.1:c.106-21890T>C	ENSP00000510490.1:n.106-21890T>C
ENST00000689156.1:c.303+2T>C	ENSP00000509143.1:n.303+2T>C
ENST00000691093.1:c.123+2T>C	ENSP00000509465.1:n.123+2T>C
ENST00000691703.1:c.303+2T>C	ENSP00000508496.1:n.303+2T>C
ENST00000692664.1:c.153+2T>C	ENSP00000508656.1:n.153+2T>C
ENST00000693329.1:c.303+2T>C	ENSP00000508490.1:n.303+2T>C
XM_005264502.1:c.303+2T>C	XP_005264559.1:n.303+2T>C
XM_005264502.2:c.303+2T>C	XP_005264559.1:n.303+2T>C
XM_005264504.1:c.189+2T>C	XP_005264561.1:n.189+2T>C
XM_011533043.1:c.324+2T>C	XP_011531345.1:n.324+2T>C
XM_011533044.1:c.285+2T>C	XP_011531346.1:n.285+2T>C
XM_011533045.1:c.279+2T>C	XP_011531347.1:n.279+2T>C
XM_011533045.2:c.279+2T>C	XP_011531347.1:n.279+2T>C
XM_011533046.1:c.324+2T>C	XP_011531348.1:n.324+2T>C
XM_017004725.1:c.324+2T>C	XP_016860214.1:n.324+2T>C
XM_017004726.1:c.324+2T>C	XP_016860215.1:n.324+2T>C
XM_017004727.1:c.324+2T>C	XP_016860216.1:n.324+2T>C