Canonical Allele Identifier: CA16604722

Gene: REEP1

Linked Data

• ClinVar Variation Id: 387507
• ClinVar RCV Id: RCV000439444 ; RCV002522376
• dbSNP Id: rs1057522806
• gnomAD v4: 2-86337465-A-T
• MyVariant Identifiers: chr2:g.86564588A>T (hg19) ; chr2:g.86337465A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86337465A>T , CM000664.2:g.86337465A>T	GRCh38
NC_000002.11:g.86564588A>T , CM000664.1:g.86564588A>T	GRCh37
NC_000002.10:g.86418099A>T	NCBI36
NG_013037.1:g.5619T>A , LRG_713:g.5619T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643817.2:c.32+14T>A	ENSP00000495610.2:n.32+14T>A
ENST00000686220.1:c.24+14T>A	ENSP00000509904.1:n.24+14T>A
ENST00000688400.1:c.32+14T>A	ENSP00000510490.1:n.32+14T>A
ENST00000689156.1:c.32+14T>A	ENSP00000509143.1:n.32+14T>A
ENST00000691093.1:c.-72+14T>A	ENSP00000509465.1:n.-72+14T>A
ENST00000691703.1:c.32+14T>A	ENSP00000508496.1:n.32+14T>A
ENST00000692664.1:c.32+14T>A	ENSP00000508656.1:n.32+14T>A
ENST00000693329.1:c.32+14T>A	ENSP00000508490.1:n.32+14T>A
ENST00000453231.6:c.53+559T>A	ENSP00000392197.2:n.53+559T>A
ENST00000535845.6:c.24+14T>A	ENSP00000437567.1:n.24+14T>A
ENST00000538924.7:c.32+14T>A MANE Select	ENSP00000438346.3:n.32+14T>A
ENST00000541910.6:c.32+14T>A	ENSP00000442681.1:n.32+14T>A
ENST00000165698.9:c.32+14T>A	ENSP00000165698.5:n.32+14T>A
ENST00000428491.5:c.24+14T>A	ENSP00000400607.1:n.24+14T>A
ENST00000437769.5:c.32+14T>A	ENSP00000401140.1:n.32+14T>A
ENST00000453231.5:c.53+559T>A	ENSP00000392197.1:n.53+559T>A
ENST00000473407.5:n.5T>A
ENST00000535845.5:c.24+14T>A	ENSP00000437567.1:n.24+14T>A
ENST00000538924.5:c.53+559T>A	ENSP00000438346.1:n.53+559T>A
ENST00000541910.5:c.32+14T>A	ENSP00000442681.1:n.32+14T>A
NM_001164730.1:c.53+559T>A , LRG_713t1:c.53+559T>A	NP_001158202.1:n.53+559T>A
NM_001164731.1:c.24+14T>A	NP_001158203.1:n.24+14T>A
NM_001164732.1:c.32+14T>A	NP_001158204.1:n.32+14T>A
NM_022912.2:c.32+14T>A , LRG_713t2:c.32+14T>A	NP_075063.1:n.32+14T>A
XM_005264502.1:c.32+14T>A	XP_005264559.1:n.32+14T>A
XM_011533043.1:c.53+559T>A	XP_011531345.1:n.53+559T>A
XM_011533046.1:c.53+559T>A	XP_011531348.1:n.53+559T>A
XM_005264502.2:c.32+14T>A	XP_005264559.1:n.32+14T>A
NM_001164730.2:c.53+559T>A	NP_001158202.1:n.53+559T>A
NM_001164731.2:c.24+14T>A	NP_001158203.1:n.24+14T>A
NM_001164732.2:c.32+14T>A	NP_001158204.1:n.32+14T>A
NM_001371279.1:c.32+14T>A MANE Select	NP_001358208.1:n.32+14T>A
NM_001371280.1:c.32+14T>A	NP_001358209.1:n.32+14T>A
NM_022912.3:c.32+14T>A	NP_075063.1:n.32+14T>A