Canonical Allele Identifier: CA894023653

Gene: REEP1

Linked Data

• dbSNP Id: rs1381470700
• gnomAD v3: 2-86217183-G-A
• gnomAD v4: 2-86217183-G-A
• MyVariant Identifiers: chr2:g.86444306G>A (hg19) ; chr2:g.86217183G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217183G>A , CM000664.2:g.86217183G>A	GRCh38
NC_000002.11:g.86444306G>A , CM000664.1:g.86444306G>A	GRCh37
NC_000002.10:g.86297817G>A	NCBI36
NG_013037.1:g.125901C>T , LRG_713:g.125901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643817.2:c.748-73C>T	ENSP00000495610.2:n.748-73C>T
ENST00000686220.1:c.*44-73C>T	ENSP00000509904.1:n.*44-73C>T
ENST00000687696.1:n.126-73C>T
ENST00000687927.1:n.1062-73C>T
ENST00000688400.1:c.284-73C>T	ENSP00000510490.1:n.284-73C>T
ENST00000689156.1:c.418-73C>T	ENSP00000509143.1:n.418-73C>T
ENST00000691093.1:c.416-73C>T	ENSP00000509465.1:n.416-73C>T
ENST00000691703.1:c.632-73C>T	ENSP00000508496.1:n.632-73C>T
ENST00000692664.1:c.446-73C>T	ENSP00000508656.1:n.446-73C>T
ENST00000693329.1:c.*70-73C>T	ENSP00000508490.1:n.*70-73C>T
ENST00000453231.6:c.617-73C>T	ENSP00000392197.2:n.617-73C>T
ENST00000535845.6:c.515-73C>T	ENSP00000437567.1:n.515-73C>T
ENST00000538924.7:c.784-73C>T MANE Select	ENSP00000438346.3:n.784-73C>T
ENST00000541910.6:c.361-73C>T	ENSP00000442681.1:n.361-73C>T
ENST00000642243.1:c.892-73C>T	ENSP00000494960.1:n.892-73C>T
ENST00000643817.1:c.706-73C>T	ENSP00000495610.1:n.706-73C>T
ENST00000644644.1:c.793-73C>T	ENSP00000494305.1:n.793-73C>T
ENST00000646181.1:n.469-73C>T
ENST00000165698.9:c.596-73C>T	ENSP00000165698.5:n.596-73C>T
ENST00000535845.5:c.515-73C>T	ENSP00000437567.1:n.515-73C>T
ENST00000538924.5:c.617-73C>T	ENSP00000438346.1:n.617-73C>T
ENST00000541910.5:c.361-73C>T	ENSP00000442681.1:n.361-73C>T
NM_001164730.1:c.617-73C>T , LRG_713t1:c.617-73C>T	NP_001158202.1:n.617-73C>T
NM_001164731.1:c.515-73C>T	NP_001158203.1:n.515-73C>T
NM_001164732.1:c.361-73C>T	NP_001158204.1:n.361-73C>T
NM_022912.2:c.596-73C>T , LRG_713t2:c.596-73C>T	NP_075063.1:n.596-73C>T
XM_005264502.1:c.784-73C>T	XP_005264559.1:n.784-73C>T
XM_005264504.1:c.670-73C>T	XP_005264561.1:n.670-73C>T
XM_011533043.1:c.769-73C>T	XP_011531345.1:n.769-73C>T
XM_011533044.1:c.766-73C>T	XP_011531346.1:n.766-73C>T
XM_011533045.1:c.760-73C>T	XP_011531347.1:n.760-73C>T
XM_011533046.1:c.653-73C>T	XP_011531348.1:n.653-73C>T
XM_005264502.2:c.784-73C>T	XP_005264559.1:n.784-73C>T
XM_011533045.2:c.760-73C>T	XP_011531347.1:n.760-73C>T
XM_017004725.1:c.769-73C>T	XP_016860214.1:n.769-73C>T
XM_017004726.1:c.653-73C>T	XP_016860215.1:n.653-73C>T
XM_017004727.1:c.617-73C>T	XP_016860216.1:n.617-73C>T
NM_001164730.2:c.617-73C>T	NP_001158202.1:n.617-73C>T
NM_001164731.2:c.515-73C>T	NP_001158203.1:n.515-73C>T
NM_001164732.2:c.361-73C>T	NP_001158204.1:n.361-73C>T
NM_001371279.1:c.784-73C>T MANE Select	NP_001358208.1:n.784-73C>T
NM_001371280.1:c.418-73C>T	NP_001358209.1:n.418-73C>T
NM_022912.3:c.596-73C>T	NP_075063.1:n.596-73C>T