Canonical Allele Identifier: CA1748654

Gene: REEP1

Linked Data

• ClinVar Variation Id: 808784
• ClinVar RCV Id: RCV000997182 ; RCV003928650
• dbSNP Id: rs201177149
• ExAC: 2:86444174 G / A
• gnomAD v2: 2-86444174-G-A
• gnomAD v3: 2-86217051-G-A
• gnomAD v4: 2-86217051-G-A
• MyVariant Identifiers: chr2:g.86444174G>A (hg19) ; chr2:g.86217051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217051G>A , CM000664.2:g.86217051G>A	GRCh38
NC_000002.11:g.86444174G>A , CM000664.1:g.86444174G>A	GRCh37
NC_000002.10:g.86297685G>A	NCBI36
NG_013037.1:g.126033C>T , LRG_713:g.126033C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000643817.2:c.807C>T	ENSP00000495610.2:p.Thr269=
ENST00000686220.1:c.*103C>T	ENSP00000509904.1:n.*103C>T
ENST00000687696.1:n.185C>T
ENST00000687927.1:n.1121C>T
ENST00000688400.1:c.343C>T	ENSP00000510490.1:n.343C>T
ENST00000689156.1:c.477C>T	ENSP00000509143.1:p.Thr159=
ENST00000691093.1:c.*49C>T	ENSP00000509465.1:n.*49C>T
ENST00000691703.1:c.*49C>T	ENSP00000508496.1:n.*49C>T
ENST00000692664.1:c.*49C>T	ENSP00000508656.1:n.*49C>T
ENST00000693329.1:c.*129C>T	ENSP00000508490.1:n.*129C>T
ENST00000453231.6:c.*49C>T	ENSP00000392197.2:n.*49C>T
ENST00000535845.6:c.*49C>T	ENSP00000437567.1:n.*49C>T
ENST00000538924.7:c.843C>T MANE Select	ENSP00000438346.3:p.Thr281=
ENST00000541910.6:c.420C>T	ENSP00000442681.1:p.Thr140=
ENST00000642243.1:c.951C>T	ENSP00000494960.1:p.Thr317=
ENST00000643817.1:c.765C>T	ENSP00000495610.1:p.Thr255=
ENST00000644644.1:c.852C>T	ENSP00000494305.1:p.Thr284=
ENST00000646181.1:n.528C>T
ENST00000165698.9:c.*49C>T	ENSP00000165698.5:n.*49C>T
ENST00000535845.5:c.*49C>T	ENSP00000437567.1:n.*49C>T
ENST00000538924.5:c.*49C>T	ENSP00000438346.1:n.*49C>T
ENST00000541910.5:c.420C>T	ENSP00000442681.1:p.Thr140=
NM_001164730.1:c.*49C>T , LRG_713t1:c.*49C>T	NP_001158202.1:n.*49C>T
NM_001164731.1:c.*49C>T	NP_001158203.1:n.*49C>T
NM_001164732.1:c.420C>T	NP_001158204.1:p.Thr140=
NM_022912.2:c.*49C>T , LRG_713t2:c.*49C>T	NP_075063.1:n.*49C>T
XM_005264502.1:c.843C>T	XP_005264559.1:p.Thr281=
XM_005264504.1:c.729C>T	XP_005264561.1:p.Thr243=
XM_011533043.1:c.828C>T	XP_011531345.1:p.Thr276=
XM_011533044.1:c.825C>T	XP_011531346.1:p.Thr275=
XM_011533045.1:c.819C>T	XP_011531347.1:p.Thr273=
XM_011533046.1:c.*49C>T	XP_011531348.1:n.*49C>T
XM_005264502.2:c.843C>T	XP_005264559.1:p.Thr281=
XM_011533045.2:c.819C>T	XP_011531347.1:p.Thr273=
XM_017004725.1:c.828C>T	XP_016860214.1:p.Thr276=
XM_017004726.1:c.*49C>T	XP_016860215.1:n.*49C>T
XM_017004727.1:c.*49C>T	XP_016860216.1:n.*49C>T
NM_001164730.2:c.*49C>T	NP_001158202.1:n.*49C>T
NM_001164731.2:c.*49C>T	NP_001158203.1:n.*49C>T
NM_001164732.2:c.420C>T	NP_001158204.1:p.Thr140=
NM_001371279.1:c.843C>T MANE Select	NP_001358208.1:p.Thr281=
NM_001371280.1:c.477C>T	NP_001358209.1:p.Thr159=
NM_022912.3:c.*49C>T	NP_075063.1:n.*49C>T