Canonical Allele Identifier: CA115245

Gene: REEP1

Linked Data

• ClinVar Variation Id: 1861
• ClinVar RCV Id: RCV000001938 ; RCV000200803 ; RCV001333150 ; RCV001703411 ; RCV001847563 ; RCV003258655 ; RCV003904794
• dbSNP Id: rs377637314
• ExAC: 2:86444180 C / A
• gnomAD v2: 2-86444180-C-A
• gnomAD v3: 2-86217057-C-A
• gnomAD v4: 2-86217057-C-A
• MyVariant Identifiers: chr2:g.86444180C>A (hg19) ; chr2:g.86217057C>A (hg38)
• PubMed: PMID:16826527 ; PMID:18321925 ; PMID:19034539

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217057C>A , CM000664.2:g.86217057C>A	GRCh38
NC_000002.11:g.86444180C>A , CM000664.1:g.86444180C>A	GRCh37
NC_000002.10:g.86297691C>A	NCBI36
NG_013037.1:g.126027G>T , LRG_713:g.126027G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000643817.2:c.801G>T	ENSP00000495610.2:p.Ser267=
ENST00000686220.1:c.*97G>T	ENSP00000509904.1:n.*97G>T
ENST00000687696.1:n.179G>T
ENST00000687927.1:n.1115G>T
ENST00000688400.1:c.337G>T	ENSP00000510490.1:n.337G>T
ENST00000689156.1:c.471G>T	ENSP00000509143.1:p.Ser157=
ENST00000691093.1:c.*43G>T	ENSP00000509465.1:n.*43G>T
ENST00000691703.1:c.*43G>T	ENSP00000508496.1:n.*43G>T
ENST00000692664.1:c.*43G>T	ENSP00000508656.1:n.*43G>T
ENST00000693329.1:c.*123G>T	ENSP00000508490.1:n.*123G>T
ENST00000453231.6:c.*43G>T	ENSP00000392197.2:n.*43G>T
ENST00000535845.6:c.*43G>T	ENSP00000437567.1:n.*43G>T
ENST00000538924.7:c.837G>T MANE Select	ENSP00000438346.3:p.Ser279=
ENST00000541910.6:c.414G>T	ENSP00000442681.1:p.Ser138=
ENST00000642243.1:c.945G>T	ENSP00000494960.1:p.Ser315=
ENST00000643817.1:c.759G>T	ENSP00000495610.1:p.Ser253=
ENST00000644644.1:c.846G>T	ENSP00000494305.1:p.Ser282=
ENST00000646181.1:n.522G>T
ENST00000165698.9:c.*43G>T	ENSP00000165698.5:n.*43G>T
ENST00000535845.5:c.*43G>T	ENSP00000437567.1:n.*43G>T
ENST00000538924.5:c.*43G>T	ENSP00000438346.1:n.*43G>T
ENST00000541910.5:c.414G>T	ENSP00000442681.1:p.Ser138=
NM_001164730.1:c.*43G>T , LRG_713t1:c.*43G>T	NP_001158202.1:n.*43G>T
NM_001164731.1:c.*43G>T	NP_001158203.1:n.*43G>T
NM_001164732.1:c.414G>T	NP_001158204.1:p.Ser138=
NM_022912.2:c.*43G>T , LRG_713t2:c.*43G>T	NP_075063.1:n.*43G>T
XM_005264502.1:c.837G>T	XP_005264559.1:p.Ser279=
XM_005264504.1:c.723G>T	XP_005264561.1:p.Ser241=
XM_011533043.1:c.822G>T	XP_011531345.1:p.Ser274=
XM_011533044.1:c.819G>T	XP_011531346.1:p.Ser273=
XM_011533045.1:c.813G>T	XP_011531347.1:p.Ser271=
XM_011533046.1:c.*43G>T	XP_011531348.1:n.*43G>T
XM_005264502.2:c.837G>T	XP_005264559.1:p.Ser279=
XM_011533045.2:c.813G>T	XP_011531347.1:p.Ser271=
XM_017004725.1:c.822G>T	XP_016860214.1:p.Ser274=
XM_017004726.1:c.*43G>T	XP_016860215.1:n.*43G>T
XM_017004727.1:c.*43G>T	XP_016860216.1:n.*43G>T
NM_001164730.2:c.*43G>T	NP_001158202.1:n.*43G>T
NM_001164731.2:c.*43G>T	NP_001158203.1:n.*43G>T
NM_001164732.2:c.414G>T	NP_001158204.1:p.Ser138=
NM_001371279.1:c.837G>T MANE Select	NP_001358208.1:p.Ser279=
NM_001371280.1:c.471G>T	NP_001358209.1:p.Ser157=
NM_022912.3:c.*43G>T	NP_075063.1:n.*43G>T