Canonical Allele Identifier: CA347544169

Gene: REEP1

Linked Data

• dbSNP Id: rs1271993661
• gnomAD v2: 2-86444182-A-G
• gnomAD v3: 2-86217059-A-G
• gnomAD v4: 2-86217059-A-G
• MyVariant Identifiers: chr2:g.86444182A>G (hg19) ; chr2:g.86217059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86217059A>G , CM000664.2:g.86217059A>G	GRCh38
NC_000002.11:g.86444182A>G , CM000664.1:g.86444182A>G	GRCh37
NC_000002.10:g.86297693A>G	NCBI36
NG_013037.1:g.126025T>C , LRG_713:g.126025T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643817.2:c.799T>C	ENSP00000495610.2:p.Ser267Pro
ENST00000686220.1:c.*95T>C	ENSP00000509904.1:n.*95T>C
ENST00000687696.1:n.177T>C
ENST00000687927.1:n.1113T>C
ENST00000688400.1:c.335T>C	ENSP00000510490.1:n.335T>C
ENST00000689156.1:c.469T>C	ENSP00000509143.1:p.Ser157Pro
ENST00000691093.1:c.*41T>C	ENSP00000509465.1:n.*41T>C
ENST00000691703.1:c.*41T>C	ENSP00000508496.1:n.*41T>C
ENST00000692664.1:c.*41T>C	ENSP00000508656.1:n.*41T>C
ENST00000693329.1:c.*121T>C	ENSP00000508490.1:n.*121T>C
ENST00000453231.6:c.*41T>C	ENSP00000392197.2:n.*41T>C
ENST00000535845.6:c.*41T>C	ENSP00000437567.1:n.*41T>C
ENST00000538924.7:c.835T>C MANE Select	ENSP00000438346.3:p.Ser279Pro
ENST00000541910.6:c.412T>C	ENSP00000442681.1:p.Ser138Pro
ENST00000642243.1:c.943T>C	ENSP00000494960.1:p.Ser315Pro
ENST00000643817.1:c.757T>C	ENSP00000495610.1:p.Ser253Pro
ENST00000644644.1:c.844T>C	ENSP00000494305.1:p.Ser282Pro
ENST00000646181.1:n.520T>C
ENST00000165698.9:c.*41T>C	ENSP00000165698.5:n.*41T>C
ENST00000535845.5:c.*41T>C	ENSP00000437567.1:n.*41T>C
ENST00000538924.5:c.*41T>C	ENSP00000438346.1:n.*41T>C
ENST00000541910.5:c.412T>C	ENSP00000442681.1:p.Ser138Pro
NM_001164730.1:c.*41T>C , LRG_713t1:c.*41T>C	NP_001158202.1:n.*41T>C
NM_001164731.1:c.*41T>C	NP_001158203.1:n.*41T>C
NM_001164732.1:c.412T>C	NP_001158204.1:p.Ser138Pro
NM_022912.2:c.*41T>C , LRG_713t2:c.*41T>C	NP_075063.1:n.*41T>C
XM_005264502.1:c.835T>C	XP_005264559.1:p.Ser279Pro
XM_005264504.1:c.721T>C	XP_005264561.1:p.Ser241Pro
XM_011533043.1:c.820T>C	XP_011531345.1:p.Ser274Pro
XM_011533044.1:c.817T>C	XP_011531346.1:p.Ser273Pro
XM_011533045.1:c.811T>C	XP_011531347.1:p.Ser271Pro
XM_011533046.1:c.*41T>C	XP_011531348.1:n.*41T>C
XM_005264502.2:c.835T>C	XP_005264559.1:p.Ser279Pro
XM_011533045.2:c.811T>C	XP_011531347.1:p.Ser271Pro
XM_017004725.1:c.820T>C	XP_016860214.1:p.Ser274Pro
XM_017004726.1:c.*41T>C	XP_016860215.1:n.*41T>C
XM_017004727.1:c.*41T>C	XP_016860216.1:n.*41T>C
NM_001164730.2:c.*41T>C	NP_001158202.1:n.*41T>C
NM_001164731.2:c.*41T>C	NP_001158203.1:n.*41T>C
NM_001164732.2:c.412T>C	NP_001158204.1:p.Ser138Pro
NM_001371279.1:c.835T>C MANE Select	NP_001358208.1:p.Ser279Pro
NM_001371280.1:c.469T>C	NP_001358209.1:p.Ser157Pro
NM_022912.3:c.*41T>C	NP_075063.1:n.*41T>C