Canonical Allele Identifier: CA2659929640

Gene: REEP1

Linked Data

• gnomAD v4: 2-86217096-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217096G>T , CM000664.2:g.86217096G>T	GRCh38
NC_000002.11:g.86444219G>T , CM000664.1:g.86444219G>T	GRCh37
NC_000002.10:g.86297730G>T	NCBI36
NG_013037.1:g.125988C>A , LRG_713:g.125988C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643817.2:c.762C>A	ENSP00000495610.2:p.Ile254=
ENST00000686220.1:c.*58C>A	ENSP00000509904.1:n.*58C>A
ENST00000687696.1:n.140C>A
ENST00000687927.1:n.1076C>A
ENST00000688400.1:c.298C>A	ENSP00000510490.1:n.298C>A
ENST00000689156.1:c.432C>A	ENSP00000509143.1:p.Ile144=
ENST00000691093.1:c.*4C>A	ENSP00000509465.1:n.*4C>A
ENST00000691703.1:c.*4C>A	ENSP00000508496.1:n.*4C>A
ENST00000692664.1:c.*4C>A	ENSP00000508656.1:n.*4C>A
ENST00000693329.1:c.*84C>A	ENSP00000508490.1:n.*84C>A
ENST00000453231.6:c.*4C>A	ENSP00000392197.2:n.*4C>A
ENST00000535845.6:c.*4C>A	ENSP00000437567.1:n.*4C>A
ENST00000538924.7:c.798C>A MANE Select	ENSP00000438346.3:p.Ile266=
ENST00000541910.6:c.375C>A	ENSP00000442681.1:p.Ile125=
ENST00000642243.1:c.906C>A	ENSP00000494960.1:p.Ile302=
ENST00000643817.1:c.720C>A	ENSP00000495610.1:p.Ile240=
ENST00000644644.1:c.807C>A	ENSP00000494305.1:p.Ile269=
ENST00000646181.1:n.483C>A
ENST00000165698.9:c.*4C>A	ENSP00000165698.5:n.*4C>A
ENST00000535845.5:c.*4C>A	ENSP00000437567.1:n.*4C>A
ENST00000538924.5:c.*4C>A	ENSP00000438346.1:n.*4C>A
ENST00000541910.5:c.375C>A	ENSP00000442681.1:p.Ile125=
NM_001164730.1:c.*4C>A , LRG_713t1:c.*4C>A	NP_001158202.1:n.*4C>A
NM_001164731.1:c.*4C>A	NP_001158203.1:n.*4C>A
NM_001164732.1:c.375C>A	NP_001158204.1:p.Ile125=
NM_022912.2:c.*4C>A , LRG_713t2:c.*4C>A	NP_075063.1:n.*4C>A
XM_005264502.1:c.798C>A	XP_005264559.1:p.Ile266=
XM_005264504.1:c.684C>A	XP_005264561.1:p.Ile228=
XM_011533043.1:c.783C>A	XP_011531345.1:p.Ile261=
XM_011533044.1:c.780C>A	XP_011531346.1:p.Ile260=
XM_011533045.1:c.774C>A	XP_011531347.1:p.Ile258=
XM_011533046.1:c.*4C>A	XP_011531348.1:n.*4C>A
XM_005264502.2:c.798C>A	XP_005264559.1:p.Ile266=
XM_011533045.2:c.774C>A	XP_011531347.1:p.Ile258=
XM_017004725.1:c.783C>A	XP_016860214.1:p.Ile261=
XM_017004726.1:c.*4C>A	XP_016860215.1:n.*4C>A
XM_017004727.1:c.*4C>A	XP_016860216.1:n.*4C>A
NM_001164730.2:c.*4C>A	NP_001158202.1:n.*4C>A
NM_001164731.2:c.*4C>A	NP_001158203.1:n.*4C>A
NM_001164732.2:c.375C>A	NP_001158204.1:p.Ile125=
NM_001371279.1:c.798C>A MANE Select	NP_001358208.1:p.Ile266=
NM_001371280.1:c.432C>A	NP_001358209.1:p.Ile144=
NM_022912.3:c.*4C>A	NP_075063.1:n.*4C>A