Canonical Allele Identifier: CA1748655

Gene: REEP1

Linked Data

• ClinVar Variation Id: 895530
• ClinVar RCV Id: RCV001137684
• dbSNP Id: rs148490065
• ExAC: 2:86444181 G / A
• gnomAD v2: 2-86444181-G-A
• gnomAD v3: 2-86217058-G-A
• gnomAD v4: 2-86217058-G-A
• MyVariant Identifiers: chr2:g.86444181G>A (hg19) ; chr2:g.86217058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217058G>A , CM000664.2:g.86217058G>A	GRCh38
NC_000002.11:g.86444181G>A , CM000664.1:g.86444181G>A	GRCh37
NC_000002.10:g.86297692G>A	NCBI36
NG_013037.1:g.126026C>T , LRG_713:g.126026C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000643817.2:c.800C>T	ENSP00000495610.2:p.Ser267Leu
ENST00000686220.1:c.*96C>T	ENSP00000509904.1:n.*96C>T
ENST00000687696.1:n.178C>T
ENST00000687927.1:n.1114C>T
ENST00000688400.1:c.336C>T	ENSP00000510490.1:n.336C>T
ENST00000689156.1:c.470C>T	ENSP00000509143.1:p.Ser157Leu
ENST00000691093.1:c.*42C>T	ENSP00000509465.1:n.*42C>T
ENST00000691703.1:c.*42C>T	ENSP00000508496.1:n.*42C>T
ENST00000692664.1:c.*42C>T	ENSP00000508656.1:n.*42C>T
ENST00000693329.1:c.*122C>T	ENSP00000508490.1:n.*122C>T
ENST00000453231.6:c.*42C>T	ENSP00000392197.2:n.*42C>T
ENST00000535845.6:c.*42C>T	ENSP00000437567.1:n.*42C>T
ENST00000538924.7:c.836C>T MANE Select	ENSP00000438346.3:p.Ser279Leu
ENST00000541910.6:c.413C>T	ENSP00000442681.1:p.Ser138Leu
ENST00000642243.1:c.944C>T	ENSP00000494960.1:p.Ser315Leu
ENST00000643817.1:c.758C>T	ENSP00000495610.1:p.Ser253Leu
ENST00000644644.1:c.845C>T	ENSP00000494305.1:p.Ser282Leu
ENST00000646181.1:n.521C>T
ENST00000165698.9:c.*42C>T	ENSP00000165698.5:n.*42C>T
ENST00000535845.5:c.*42C>T	ENSP00000437567.1:n.*42C>T
ENST00000538924.5:c.*42C>T	ENSP00000438346.1:n.*42C>T
ENST00000541910.5:c.413C>T	ENSP00000442681.1:p.Ser138Leu
NM_001164730.1:c.*42C>T , LRG_713t1:c.*42C>T	NP_001158202.1:n.*42C>T
NM_001164731.1:c.*42C>T	NP_001158203.1:n.*42C>T
NM_001164732.1:c.413C>T	NP_001158204.1:p.Ser138Leu
NM_022912.2:c.*42C>T , LRG_713t2:c.*42C>T	NP_075063.1:n.*42C>T
XM_005264502.1:c.836C>T	XP_005264559.1:p.Ser279Leu
XM_005264504.1:c.722C>T	XP_005264561.1:p.Ser241Leu
XM_011533043.1:c.821C>T	XP_011531345.1:p.Ser274Leu
XM_011533044.1:c.818C>T	XP_011531346.1:p.Ser273Leu
XM_011533045.1:c.812C>T	XP_011531347.1:p.Ser271Leu
XM_011533046.1:c.*42C>T	XP_011531348.1:n.*42C>T
XM_005264502.2:c.836C>T	XP_005264559.1:p.Ser279Leu
XM_011533045.2:c.812C>T	XP_011531347.1:p.Ser271Leu
XM_017004725.1:c.821C>T	XP_016860214.1:p.Ser274Leu
XM_017004726.1:c.*42C>T	XP_016860215.1:n.*42C>T
XM_017004727.1:c.*42C>T	XP_016860216.1:n.*42C>T
NM_001164730.2:c.*42C>T	NP_001158202.1:n.*42C>T
NM_001164731.2:c.*42C>T	NP_001158203.1:n.*42C>T
NM_001164732.2:c.413C>T	NP_001158204.1:p.Ser138Leu
NM_001371279.1:c.836C>T MANE Select	NP_001358208.1:p.Ser279Leu
NM_001371280.1:c.470C>T	NP_001358209.1:p.Ser157Leu
NM_022912.3:c.*42C>T	NP_075063.1:n.*42C>T