Canonical Allele Identifier: CA115251

Gene: REEP1

Linked Data

• ClinVar Variation Id: 1863
• ClinVar RCV Id: RCV000001940 ; RCV001847565 ; RCV002243614
• dbSNP Id: rs121918263
• gnomAD v4: 2-86252037-G-A
• MyVariant Identifiers: chr2:g.86479160G>A (hg19) ; chr2:g.86252037G>A (hg38)
• PubMed: PMID:19034539 ; PMID:22703882

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86252037G>A , CM000664.2:g.86252037G>A	GRCh38
NC_000002.11:g.86479160G>A , CM000664.1:g.86479160G>A	GRCh37
NC_000002.10:g.86332671G>A	NCBI36
NG_013037.1:g.91047C>T , LRG_713:g.91047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643817.2:c.337C>T	ENSP00000495610.2:p.Arg113Ter
ENST00000686220.1:c.256C>T	ENSP00000509904.1:p.Arg86Ter
ENST00000688400.1:c.106-19235C>T	ENSP00000510490.1:n.106-19235C>T
ENST00000689156.1:c.337C>T	ENSP00000509143.1:p.Arg113Ter
ENST00000691093.1:c.157C>T	ENSP00000509465.1:p.Arg53Ter
ENST00000691703.1:c.337C>T	ENSP00000508496.1:p.Arg113Ter
ENST00000692664.1:c.187C>T	ENSP00000508656.1:p.Arg63Ter
ENST00000693329.1:c.337C>T	ENSP00000508490.1:p.Arg113Ter
ENST00000453231.6:c.358C>T	ENSP00000392197.2:p.Arg120Ter
ENST00000535845.6:c.256C>T	ENSP00000437567.1:p.Arg86Ter
ENST00000538924.7:c.337C>T MANE Select	ENSP00000438346.3:p.Arg113Ter
ENST00000541910.6:c.182+11928C>T	ENSP00000442681.1:n.182+11928C>T
ENST00000642243.1:c.295C>T	ENSP00000494960.1:p.Arg99Ter
ENST00000643817.1:c.295C>T	ENSP00000495610.1:p.Arg99Ter
ENST00000644644.1:c.295C>T	ENSP00000494305.1:p.Arg99Ter
ENST00000165698.9:c.337C>T	ENSP00000165698.5:p.Arg113Ter
ENST00000428491.5:c.256C>T	ENSP00000400607.1:p.Arg86Ter
ENST00000437769.5:c.182+11928C>T	ENSP00000401140.1:n.182+11928C>T
ENST00000453231.5:c.358C>T	ENSP00000392197.1:p.Arg120Ter
ENST00000473407.5:n.427C>T
ENST00000489855.2:c.273C>T
ENST00000490915.5:n.359C>T
ENST00000535845.5:c.256C>T	ENSP00000437567.1:p.Arg86Ter
ENST00000538924.5:c.358C>T	ENSP00000438346.1:p.Arg120Ter
ENST00000541910.5:c.182+11928C>T	ENSP00000442681.1:n.182+11928C>T
NM_001164730.1:c.358C>T , LRG_713t1:c.358C>T	NP_001158202.1:p.Arg120Ter
NM_001164731.1:c.256C>T	NP_001158203.1:p.Arg86Ter
NM_001164732.1:c.182+11928C>T	NP_001158204.1:n.182+11928C>T
NM_022912.2:c.337C>T , LRG_713t2:c.337C>T	NP_075063.1:p.Arg113Ter
XM_005264502.1:c.337C>T	XP_005264559.1:p.Arg113Ter
XM_005264504.1:c.223C>T	XP_005264561.1:p.Arg75Ter
XM_011533043.1:c.358C>T	XP_011531345.1:p.Arg120Ter
XM_011533044.1:c.319C>T	XP_011531346.1:p.Arg107Ter
XM_011533045.1:c.313C>T	XP_011531347.1:p.Arg105Ter
XM_011533046.1:c.358C>T	XP_011531348.1:p.Arg120Ter
XM_005264502.2:c.337C>T	XP_005264559.1:p.Arg113Ter
XM_011533045.2:c.313C>T	XP_011531347.1:p.Arg105Ter
XM_017004725.1:c.358C>T	XP_016860214.1:p.Arg120Ter
XM_017004726.1:c.358C>T	XP_016860215.1:p.Arg120Ter
XM_017004727.1:c.358C>T	XP_016860216.1:p.Arg120Ter
NM_001164730.2:c.358C>T	NP_001158202.1:p.Arg120Ter
NM_001164731.2:c.256C>T	NP_001158203.1:p.Arg86Ter
NM_001164732.2:c.182+11928C>T	NP_001158204.1:n.182+11928C>T
NM_001371279.1:c.337C>T MANE Select	NP_001358208.1:p.Arg113Ter
NM_001371280.1:c.337C>T	NP_001358209.1:p.Arg113Ter
NM_022912.3:c.337C>T	NP_075063.1:p.Arg113Ter