Canonical Allele Identifier: CA359255435
Gene: RETREG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.16474792C>A , CM000667.2:g.16474792C>A GRCh38
NC_000005.9:g.16474901C>A , CM000667.1:g.16474901C>A GRCh37
NC_000005.8:g.16527901C>A NCBI36
NG_016644.2:g.147218G>T , LRG_363:g.147218G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000509977.2:n.1091G>T
ENST00000510362.6:c.918G>T ENSP00000425089.2:p.Gln306His
ENST00000682142.1:c.1140G>T ENSP00000506804.1:p.Gln380His
ENST00000682229.1:c.1599G>T ENSP00000507342.1:p.Gln533His
ENST00000682564.1:c.1440G>T ENSP00000508099.1:p.Gln480His
ENST00000682628.1:c.918G>T ENSP00000507536.1:p.Gln306His
ENST00000682982.1:n.2217G>T
ENST00000683045.1:n.5987G>T
ENST00000683130.1:c.*689G>T ENSP00000507709.1:n.*689G>T
ENST00000683169.1:n.1942G>T
ENST00000683414.1:c.918G>T ENSP00000508335.1:p.Gln306His
ENST00000683527.1:c.*742G>T ENSP00000507253.1:n.*742G>T
ENST00000683539.1:c.918G>T ENSP00000507466.1:p.Gln306His
ENST00000684456.1:c.375G>T ENSP00000508060.1:p.Gln125His
ENST00000684521.1:c.1305G>T ENSP00000507521.1:p.Gln435His
ENST00000684695.1:n.3713G>T
ENST00000306320.10:c.1443G>T MANE Select ENSP00000304642.9:p.Gln481His
ENST00000306320.9:c.1443G>T ENSP00000304642.9:p.Gln481His
ENST00000399793.6:c.1020G>T ENSP00000382691.2:p.Gln340His
ENST00000510362.5:c.602G>T
NM_001034850.2:c.1443G>T , LRG_363t1:c.1443G>T NP_001030022.1:p.Gln481His
NM_019000.4:c.1020G>T NP_061873.2:p.Gln340His
XM_011514053.1:c.1563G>T XP_011512355.1:p.Gln521His
XM_011514054.1:c.1140G>T XP_011512356.1:p.Gln380His
XM_011514055.1:c.1044G>T XP_011512357.1:p.Gln348His
XM_011514053.3:c.1563G>T XP_011512355.1:p.Gln521His
XM_011514054.2:c.1140G>T XP_011512356.1:p.Gln380His
XM_011514055.3:c.1044G>T XP_011512357.1:p.Gln348His
XM_024446117.1:c.918G>T XP_024301885.1:p.Gln306His
XM_024446118.1:c.918G>T XP_024301886.1:p.Gln306His
NM_001034850.3:c.1443G>T MANE Select NP_001030022.1:p.Gln481His
NM_019000.5:c.1020G>T NP_061873.2:p.Gln340His