Canonical Allele Identifier: CA115247

Gene: REEP1

Linked Data

• ClinVar Variation Id: 1862
• ClinVar RCV Id: RCV000001939 ; RCV000713454 ; RCV001003951 ; RCV001847564
• dbSNP Id: rs121918262
• gnomAD v4: 2-86282216-G-T
• MyVariant Identifiers: chr2:g.86509339G>T (hg19) ; chr2:g.86282216G>T (hg38)
• PubMed: PMID:18321925 ; PMID:22703882 ; PMID:26201691

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86282216G>T , CM000664.2:g.86282216G>T	GRCh38
NC_000002.11:g.86509339G>T , CM000664.1:g.86509339G>T	GRCh37
NC_000002.10:g.86362850G>T	NCBI36
NG_013037.1:g.60868C>A , LRG_713:g.60868C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643817.2:c.59C>A	ENSP00000495610.2:p.Ala20Glu
ENST00000686220.1:c.25-18175C>A	ENSP00000509904.1:n.25-18175C>A
ENST00000688400.1:c.59C>A	ENSP00000510490.1:p.Ala20Glu
ENST00000689156.1:c.59C>A	ENSP00000509143.1:p.Ala20Glu
ENST00000691093.1:c.-45C>A	ENSP00000509465.1:n.-45C>A
ENST00000691703.1:c.59C>A	ENSP00000508496.1:p.Ala20Glu
ENST00000692664.1:c.33-27402C>A	ENSP00000508656.1:n.33-27402C>A
ENST00000693329.1:c.59C>A	ENSP00000508490.1:p.Ala20Glu
ENST00000453231.6:c.80C>A	ENSP00000392197.2:p.Ala27Glu
ENST00000535845.6:c.25-18175C>A	ENSP00000437567.1:n.25-18175C>A
ENST00000538924.7:c.59C>A MANE Select	ENSP00000438346.3:p.Ala20Glu
ENST00000541910.6:c.59C>A	ENSP00000442681.1:p.Ala20Glu
ENST00000642243.1:c.17C>A	ENSP00000494960.1:p.Ala6Glu
ENST00000643817.1:c.17C>A	ENSP00000495610.1:p.Ala6Glu
ENST00000644644.1:c.17C>A	ENSP00000494305.1:p.Ala6Glu
ENST00000165698.9:c.59C>A	ENSP00000165698.5:p.Ala20Glu
ENST00000428491.5:c.25-18175C>A	ENSP00000400607.1:n.25-18175C>A
ENST00000437769.5:c.59C>A	ENSP00000401140.1:p.Ala20Glu
ENST00000453231.5:c.80C>A	ENSP00000392197.1:p.Ala27Glu
ENST00000473407.5:n.149C>A
ENST00000475475.1:n.371C>A
ENST00000535845.5:c.25-18175C>A	ENSP00000437567.1:n.25-18175C>A
ENST00000538924.5:c.80C>A	ENSP00000438346.1:p.Ala27Glu
ENST00000541910.5:c.59C>A	ENSP00000442681.1:p.Ala20Glu
NM_001164730.1:c.80C>A , LRG_713t1:c.80C>A	NP_001158202.1:p.Ala27Glu
NM_001164731.1:c.25-18175C>A	NP_001158203.1:n.25-18175C>A
NM_001164732.1:c.59C>A	NP_001158204.1:p.Ala20Glu
NM_022912.2:c.59C>A , LRG_713t2:c.59C>A	NP_075063.1:p.Ala20Glu
XM_005264502.1:c.59C>A	XP_005264559.1:p.Ala20Glu
XM_005264504.1:c.-56C>A	XP_005264561.1:n.-56C>A
XM_011533043.1:c.80C>A	XP_011531345.1:p.Ala27Glu
XM_011533044.1:c.41C>A	XP_011531346.1:p.Ala14Glu
XM_011533045.1:c.35C>A	XP_011531347.1:p.Ala12Glu
XM_011533046.1:c.80C>A	XP_011531348.1:p.Ala27Glu
XM_005264502.2:c.59C>A	XP_005264559.1:p.Ala20Glu
XM_011533045.2:c.35C>A	XP_011531347.1:p.Ala12Glu
XM_017004725.1:c.80C>A	XP_016860214.1:p.Ala27Glu
XM_017004726.1:c.80C>A	XP_016860215.1:p.Ala27Glu
XM_017004727.1:c.80C>A	XP_016860216.1:p.Ala27Glu
NM_001164730.2:c.80C>A	NP_001158202.1:p.Ala27Glu
NM_001164731.2:c.25-18175C>A	NP_001158203.1:n.25-18175C>A
NM_001164732.2:c.59C>A	NP_001158204.1:p.Ala20Glu
NM_001371279.1:c.59C>A MANE Select	NP_001358208.1:p.Ala20Glu
NM_001371280.1:c.59C>A	NP_001358209.1:p.Ala20Glu
NM_022912.3:c.59C>A	NP_075063.1:p.Ala20Glu