Canonical Allele Identifier: CA341808
Gene: RETREG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21259
dbSNP Id: rs137852738

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.16478032A>G , CM000667.2:g.16478032A>G GRCh38
NC_000005.9:g.16478141A>G , CM000667.1:g.16478141A>G GRCh37
NC_000005.8:g.16531141A>G NCBI36
NG_016644.2:g.143978T>C , LRG_363:g.143978T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000509977.2:n.521+2T>C
ENST00000510362.6:c.348+2T>C ENSP00000425089.2:n.348+2T>C
ENST00000682033.1:c.127-2798T>C
ENST00000682142.1:c.570+2T>C ENSP00000506804.1:n.570+2T>C
ENST00000682229.1:c.1029+2T>C ENSP00000507342.1:n.1029+2T>C
ENST00000682564.1:c.870+2T>C ENSP00000508099.1:n.870+2T>C
ENST00000682628.1:c.348+2T>C ENSP00000507536.1:n.348+2T>C
ENST00000682982.1:n.1647+2T>C
ENST00000683045.1:n.5174T>C
ENST00000683130.1:c.*119+2T>C ENSP00000507709.1:n.*119+2T>C
ENST00000683169.1:n.1372+2T>C
ENST00000683414.1:c.348+2T>C ENSP00000508335.1:n.348+2T>C
ENST00000683527.1:c.*172+2T>C ENSP00000507253.1:n.*172+2T>C
ENST00000683539.1:c.348+2T>C ENSP00000507466.1:n.348+2T>C
ENST00000684456.1:c.-196+2T>C ENSP00000508060.1:n.-196+2T>C
ENST00000684521.1:c.735+2T>C ENSP00000507521.1:n.735+2T>C
ENST00000684695.1:n.3143+2T>C
ENST00000306320.10:c.873+2T>C MANE Select ENSP00000304642.9:n.873+2T>C
ENST00000306320.9:c.873+2T>C ENSP00000304642.9:n.873+2T>C
ENST00000399793.6:c.450+2T>C ENSP00000382691.2:n.450+2T>C
ENST00000509977.1:n.509+2T>C
ENST00000510362.5:c.32+2T>C
NM_001034850.2:c.873+2T>C , LRG_363t1:c.873+2T>C NP_001030022.1:n.873+2T>C
NM_019000.4:c.450+2T>C NP_061873.2:n.450+2T>C
XM_011514053.1:c.993+2T>C XP_011512355.1:n.993+2T>C
XM_011514054.1:c.570+2T>C XP_011512356.1:n.570+2T>C
XM_011514055.1:c.474+2T>C XP_011512357.1:n.474+2T>C
XM_011514053.3:c.993+2T>C XP_011512355.1:n.993+2T>C
XM_011514054.2:c.570+2T>C XP_011512356.1:n.570+2T>C
XM_011514055.3:c.474+2T>C XP_011512357.1:n.474+2T>C
XM_024446117.1:c.348+2T>C XP_024301885.1:n.348+2T>C
XM_024446118.1:c.348+2T>C XP_024301886.1:n.348+2T>C
NM_001034850.3:c.873+2T>C MANE Select NP_001030022.1:n.873+2T>C
NM_019000.5:c.450+2T>C NP_061873.2:n.450+2T>C