Canonical Allele Identifier: CA347544209

Gene: REEP1

Linked Data

• MyVariant Identifiers: chr2:g.86444193C>G (hg19) ; chr2:g.86217070C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217070C>G , CM000664.2:g.86217070C>G	GRCh38
NC_000002.11:g.86444193C>G , CM000664.1:g.86444193C>G	GRCh37
NC_000002.10:g.86297704C>G	NCBI36
NG_013037.1:g.126014G>C , LRG_713:g.126014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643817.2:c.788G>C	ENSP00000495610.2:p.Ser263Thr
ENST00000686220.1:c.*84G>C	ENSP00000509904.1:n.*84G>C
ENST00000687696.1:n.166G>C
ENST00000687927.1:n.1102G>C
ENST00000688400.1:c.324G>C	ENSP00000510490.1:n.324G>C
ENST00000689156.1:c.458G>C	ENSP00000509143.1:p.Ser153Thr
ENST00000691093.1:c.*30G>C	ENSP00000509465.1:n.*30G>C
ENST00000691703.1:c.*30G>C	ENSP00000508496.1:n.*30G>C
ENST00000692664.1:c.*30G>C	ENSP00000508656.1:n.*30G>C
ENST00000693329.1:c.*110G>C	ENSP00000508490.1:n.*110G>C
ENST00000453231.6:c.*30G>C	ENSP00000392197.2:n.*30G>C
ENST00000535845.6:c.*30G>C	ENSP00000437567.1:n.*30G>C
ENST00000538924.7:c.824G>C MANE Select	ENSP00000438346.3:p.Ser275Thr
ENST00000541910.6:c.401G>C	ENSP00000442681.1:p.Ser134Thr
ENST00000642243.1:c.932G>C	ENSP00000494960.1:p.Ser311Thr
ENST00000643817.1:c.746G>C	ENSP00000495610.1:p.Ser249Thr
ENST00000644644.1:c.833G>C	ENSP00000494305.1:p.Ser278Thr
ENST00000646181.1:n.509G>C
ENST00000165698.9:c.*30G>C	ENSP00000165698.5:n.*30G>C
ENST00000535845.5:c.*30G>C	ENSP00000437567.1:n.*30G>C
ENST00000538924.5:c.*30G>C	ENSP00000438346.1:n.*30G>C
ENST00000541910.5:c.401G>C	ENSP00000442681.1:p.Ser134Thr
NM_001164730.1:c.*30G>C , LRG_713t1:c.*30G>C	NP_001158202.1:n.*30G>C
NM_001164731.1:c.*30G>C	NP_001158203.1:n.*30G>C
NM_001164732.1:c.401G>C	NP_001158204.1:p.Ser134Thr
NM_022912.2:c.*30G>C , LRG_713t2:c.*30G>C	NP_075063.1:n.*30G>C
XM_005264502.1:c.824G>C	XP_005264559.1:p.Ser275Thr
XM_005264504.1:c.710G>C	XP_005264561.1:p.Ser237Thr
XM_011533043.1:c.809G>C	XP_011531345.1:p.Ser270Thr
XM_011533044.1:c.806G>C	XP_011531346.1:p.Ser269Thr
XM_011533045.1:c.800G>C	XP_011531347.1:p.Ser267Thr
XM_011533046.1:c.*30G>C	XP_011531348.1:n.*30G>C
XM_005264502.2:c.824G>C	XP_005264559.1:p.Ser275Thr
XM_011533045.2:c.800G>C	XP_011531347.1:p.Ser267Thr
XM_017004725.1:c.809G>C	XP_016860214.1:p.Ser270Thr
XM_017004726.1:c.*30G>C	XP_016860215.1:n.*30G>C
XM_017004727.1:c.*30G>C	XP_016860216.1:n.*30G>C
NM_001164730.2:c.*30G>C	NP_001158202.1:n.*30G>C
NM_001164731.2:c.*30G>C	NP_001158203.1:n.*30G>C
NM_001164732.2:c.401G>C	NP_001158204.1:p.Ser134Thr
NM_001371279.1:c.824G>C MANE Select	NP_001358208.1:p.Ser275Thr
NM_001371280.1:c.458G>C	NP_001358209.1:p.Ser153Thr
NM_022912.3:c.*30G>C	NP_075063.1:n.*30G>C