Canonical Allele Identifier: CA334086

Gene: REEP1

Linked Data

• ClinVar Variation Id: 188118
• ClinVar RCV Id: RCV000167976
• dbSNP Id: rs786204081
• MyVariant Identifiers: chr2:g.86479082T>A (hg19) ; chr2:g.86251959T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86251959T>A , CM000664.2:g.86251959T>A	GRCh38
NC_000002.11:g.86479082T>A , CM000664.1:g.86479082T>A	GRCh37
NC_000002.10:g.86332593T>A	NCBI36
NG_013037.1:g.91125A>T , LRG_713:g.91125A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643817.2:c.415A>T	ENSP00000495610.2:p.Lys139Ter
ENST00000686220.1:c.334A>T	ENSP00000509904.1:p.Lys112Ter
ENST00000688400.1:c.106-19157A>T	ENSP00000510490.1:n.106-19157A>T
ENST00000689156.1:c.415A>T	ENSP00000509143.1:p.Lys139Ter
ENST00000691093.1:c.235A>T	ENSP00000509465.1:p.Lys79Ter
ENST00000691703.1:c.415A>T	ENSP00000508496.1:p.Lys139Ter
ENST00000692664.1:c.265A>T	ENSP00000508656.1:p.Lys89Ter
ENST00000693329.1:c.415A>T	ENSP00000508490.1:p.Lys139Ter
ENST00000453231.6:c.436A>T	ENSP00000392197.2:p.Lys146Ter
ENST00000535845.6:c.334A>T	ENSP00000437567.1:p.Lys112Ter
ENST00000538924.7:c.415A>T MANE Select	ENSP00000438346.3:p.Lys139Ter
ENST00000541910.6:c.182+12006A>T	ENSP00000442681.1:n.182+12006A>T
ENST00000642243.1:c.373A>T	ENSP00000494960.1:p.Lys125Ter
ENST00000643817.1:c.373A>T	ENSP00000495610.1:p.Lys125Ter
ENST00000644644.1:c.373A>T	ENSP00000494305.1:p.Lys125Ter
ENST00000165698.9:c.415A>T	ENSP00000165698.5:p.Lys139Ter
ENST00000428491.5:c.334A>T	ENSP00000400607.1:p.Lys112Ter
ENST00000437769.5:c.182+12006A>T	ENSP00000401140.1:n.182+12006A>T
ENST00000453231.5:c.436A>T	ENSP00000392197.1:p.Lys146Ter
ENST00000473407.5:n.505A>T
ENST00000489855.2:c.351A>T
ENST00000490915.5:n.437A>T
ENST00000535845.5:c.334A>T	ENSP00000437567.1:p.Lys112Ter
ENST00000538924.5:c.436A>T	ENSP00000438346.1:p.Lys146Ter
ENST00000541910.5:c.182+12006A>T	ENSP00000442681.1:n.182+12006A>T
NM_001164730.1:c.436A>T , LRG_713t1:c.436A>T	NP_001158202.1:p.Lys146Ter
NM_001164731.1:c.334A>T	NP_001158203.1:p.Lys112Ter
NM_001164732.1:c.182+12006A>T	NP_001158204.1:n.182+12006A>T
NM_022912.2:c.415A>T , LRG_713t2:c.415A>T	NP_075063.1:p.Lys139Ter
XM_005264502.1:c.415A>T	XP_005264559.1:p.Lys139Ter
XM_005264504.1:c.301A>T	XP_005264561.1:p.Lys101Ter
XM_011533043.1:c.436A>T	XP_011531345.1:p.Lys146Ter
XM_011533044.1:c.397A>T	XP_011531346.1:p.Lys133Ter
XM_011533045.1:c.391A>T	XP_011531347.1:p.Lys131Ter
XM_011533046.1:c.436A>T	XP_011531348.1:p.Lys146Ter
XM_005264502.2:c.415A>T	XP_005264559.1:p.Lys139Ter
XM_011533045.2:c.391A>T	XP_011531347.1:p.Lys131Ter
XM_017004725.1:c.436A>T	XP_016860214.1:p.Lys146Ter
XM_017004726.1:c.436A>T	XP_016860215.1:p.Lys146Ter
XM_017004727.1:c.436A>T	XP_016860216.1:p.Lys146Ter
NM_001164730.2:c.436A>T	NP_001158202.1:p.Lys146Ter
NM_001164731.2:c.334A>T	NP_001158203.1:p.Lys112Ter
NM_001164732.2:c.182+12006A>T	NP_001158204.1:n.182+12006A>T
NM_001371279.1:c.415A>T MANE Select	NP_001358208.1:p.Lys139Ter
NM_001371280.1:c.415A>T	NP_001358209.1:p.Lys139Ter
NM_022912.3:c.415A>T	NP_075063.1:p.Lys139Ter