Canonical Allele Identifier: CA16611232

Gene: REEP1

Linked Data

• ClinVar Variation Id: 411807
• ClinVar RCV Id: RCV000466973
• dbSNP Id: rs1060503496
• MyVariant Identifiers: chr2:g.86509342G>C (hg19) ; chr2:g.86282219G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86282219G>C , CM000664.2:g.86282219G>C	GRCh38
NC_000002.11:g.86509342G>C , CM000664.1:g.86509342G>C	GRCh37
NC_000002.10:g.86362853G>C	NCBI36
NG_013037.1:g.60865C>G , LRG_713:g.60865C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643817.2:c.56C>G	ENSP00000495610.2:p.Pro19Arg
ENST00000686220.1:c.25-18178C>G	ENSP00000509904.1:n.25-18178C>G
ENST00000688400.1:c.56C>G	ENSP00000510490.1:p.Pro19Arg
ENST00000689156.1:c.56C>G	ENSP00000509143.1:p.Pro19Arg
ENST00000691093.1:c.-48C>G	ENSP00000509465.1:n.-48C>G
ENST00000691703.1:c.56C>G	ENSP00000508496.1:p.Pro19Arg
ENST00000692664.1:c.33-27405C>G	ENSP00000508656.1:n.33-27405C>G
ENST00000693329.1:c.56C>G	ENSP00000508490.1:p.Pro19Arg
ENST00000453231.6:c.77C>G	ENSP00000392197.2:p.Pro26Arg
ENST00000535845.6:c.25-18178C>G	ENSP00000437567.1:n.25-18178C>G
ENST00000538924.7:c.56C>G MANE Select	ENSP00000438346.3:p.Pro19Arg
ENST00000541910.6:c.56C>G	ENSP00000442681.1:p.Pro19Arg
ENST00000642243.1:c.14C>G	ENSP00000494960.1:p.Pro5Arg
ENST00000643817.1:c.14C>G	ENSP00000495610.1:p.Pro5Arg
ENST00000644644.1:c.14C>G	ENSP00000494305.1:p.Pro5Arg
ENST00000165698.9:c.56C>G	ENSP00000165698.5:p.Pro19Arg
ENST00000428491.5:c.25-18178C>G	ENSP00000400607.1:n.25-18178C>G
ENST00000437769.5:c.56C>G	ENSP00000401140.1:p.Pro19Arg
ENST00000453231.5:c.77C>G	ENSP00000392197.1:p.Pro26Arg
ENST00000473407.5:n.146C>G
ENST00000475475.1:n.368C>G
ENST00000535845.5:c.25-18178C>G	ENSP00000437567.1:n.25-18178C>G
ENST00000538924.5:c.77C>G	ENSP00000438346.1:p.Pro26Arg
ENST00000541910.5:c.56C>G	ENSP00000442681.1:p.Pro19Arg
NM_001164730.1:c.77C>G , LRG_713t1:c.77C>G	NP_001158202.1:p.Pro26Arg
NM_001164731.1:c.25-18178C>G	NP_001158203.1:n.25-18178C>G
NM_001164732.1:c.56C>G	NP_001158204.1:p.Pro19Arg
NM_022912.2:c.56C>G , LRG_713t2:c.56C>G	NP_075063.1:p.Pro19Arg
XM_005264502.1:c.56C>G	XP_005264559.1:p.Pro19Arg
XM_005264504.1:c.-59C>G	XP_005264561.1:n.-59C>G
XM_011533043.1:c.77C>G	XP_011531345.1:p.Pro26Arg
XM_011533044.1:c.38C>G	XP_011531346.1:p.Pro13Arg
XM_011533045.1:c.32C>G	XP_011531347.1:p.Pro11Arg
XM_011533046.1:c.77C>G	XP_011531348.1:p.Pro26Arg
XM_005264502.2:c.56C>G	XP_005264559.1:p.Pro19Arg
XM_011533045.2:c.32C>G	XP_011531347.1:p.Pro11Arg
XM_017004725.1:c.77C>G	XP_016860214.1:p.Pro26Arg
XM_017004726.1:c.77C>G	XP_016860215.1:p.Pro26Arg
XM_017004727.1:c.77C>G	XP_016860216.1:p.Pro26Arg
NM_001164730.2:c.77C>G	NP_001158202.1:p.Pro26Arg
NM_001164731.2:c.25-18178C>G	NP_001158203.1:n.25-18178C>G
NM_001164732.2:c.56C>G	NP_001158204.1:p.Pro19Arg
NM_001371279.1:c.56C>G MANE Select	NP_001358208.1:p.Pro19Arg
NM_001371280.1:c.56C>G	NP_001358209.1:p.Pro19Arg
NM_022912.3:c.56C>G	NP_075063.1:p.Pro19Arg