Canonical Allele Identifier: CA347544161

Gene: REEP1

Linked Data

• MyVariant Identifiers: chr2:g.86444181G>C (hg19) ; chr2:g.86217058G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000643817.2:c.800C>G	ENSP00000495610.2:p.Ser267Trp
ENST00000686220.1:c.*96C>G	ENSP00000509904.1:n.*96C>G
ENST00000687696.1:n.178C>G
ENST00000687927.1:n.1114C>G
ENST00000688400.1:c.336C>G	ENSP00000510490.1:n.336C>G
ENST00000689156.1:c.470C>G	ENSP00000509143.1:p.Ser157Trp
ENST00000691093.1:c.*42C>G	ENSP00000509465.1:n.*42C>G
ENST00000691703.1:c.*42C>G	ENSP00000508496.1:n.*42C>G
ENST00000692664.1:c.*42C>G	ENSP00000508656.1:n.*42C>G
ENST00000693329.1:c.*122C>G	ENSP00000508490.1:n.*122C>G
ENST00000453231.6:c.*42C>G	ENSP00000392197.2:n.*42C>G
ENST00000535845.6:c.*42C>G	ENSP00000437567.1:n.*42C>G
ENST00000538924.7:c.836C>G MANE Select	ENSP00000438346.3:p.Ser279Trp
ENST00000541910.6:c.413C>G	ENSP00000442681.1:p.Ser138Trp
ENST00000642243.1:c.944C>G	ENSP00000494960.1:p.Ser315Trp
ENST00000643817.1:c.758C>G	ENSP00000495610.1:p.Ser253Trp
ENST00000644644.1:c.845C>G	ENSP00000494305.1:p.Ser282Trp
ENST00000646181.1:n.521C>G
ENST00000165698.9:c.*42C>G	ENSP00000165698.5:n.*42C>G
ENST00000535845.5:c.*42C>G	ENSP00000437567.1:n.*42C>G
ENST00000538924.5:c.*42C>G	ENSP00000438346.1:n.*42C>G
ENST00000541910.5:c.413C>G	ENSP00000442681.1:p.Ser138Trp
NM_001164730.1:c.*42C>G , LRG_713t1:c.*42C>G	NP_001158202.1:n.*42C>G
NM_001164731.1:c.*42C>G	NP_001158203.1:n.*42C>G
NM_001164732.1:c.413C>G	NP_001158204.1:p.Ser138Trp
NM_022912.2:c.*42C>G , LRG_713t2:c.*42C>G	NP_075063.1:n.*42C>G
XM_005264502.1:c.836C>G	XP_005264559.1:p.Ser279Trp
XM_005264504.1:c.722C>G	XP_005264561.1:p.Ser241Trp
XM_011533043.1:c.821C>G	XP_011531345.1:p.Ser274Trp
XM_011533044.1:c.818C>G	XP_011531346.1:p.Ser273Trp
XM_011533045.1:c.812C>G	XP_011531347.1:p.Ser271Trp
XM_011533046.1:c.*42C>G	XP_011531348.1:n.*42C>G
XM_005264502.2:c.836C>G	XP_005264559.1:p.Ser279Trp
XM_011533045.2:c.812C>G	XP_011531347.1:p.Ser271Trp
XM_017004725.1:c.821C>G	XP_016860214.1:p.Ser274Trp
XM_017004726.1:c.*42C>G	XP_016860215.1:n.*42C>G
XM_017004727.1:c.*42C>G	XP_016860216.1:n.*42C>G
NM_001164730.2:c.*42C>G	NP_001158202.1:n.*42C>G
NM_001164731.2:c.*42C>G	NP_001158203.1:n.*42C>G
NM_001164732.2:c.413C>G	NP_001158204.1:p.Ser138Trp
NM_001371279.1:c.836C>G MANE Select	NP_001358208.1:p.Ser279Trp
NM_001371280.1:c.470C>G	NP_001358209.1:p.Ser157Trp
NM_022912.3:c.*42C>G	NP_075063.1:n.*42C>G