Canonical Allele Identifier: CA359255711
Gene: RETREG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 538127
ClinVar RCV Id: RCV001314522
dbSNP Id: rs1554014585

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.16474857G>C , CM000667.2:g.16474857G>C GRCh38
NC_000005.9:g.16474966G>C , CM000667.1:g.16474966G>C GRCh37
NC_000005.8:g.16527966G>C NCBI36
NG_016644.2:g.147153C>G , LRG_363:g.147153C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509977.2:n.1026C>G
ENST00000510362.6:c.853C>G ENSP00000425089.2:p.Gln285Glu
ENST00000682033.1:c.504C>G
ENST00000682142.1:c.1075C>G ENSP00000506804.1:p.Gln359Glu
ENST00000682229.1:c.1534C>G ENSP00000507342.1:p.Gln512Glu
ENST00000682564.1:c.1375C>G ENSP00000508099.1:p.Gln459Glu
ENST00000682628.1:c.853C>G ENSP00000507536.1:p.Gln285Glu
ENST00000682982.1:n.2152C>G
ENST00000683045.1:n.5922C>G
ENST00000683130.1:c.*624C>G ENSP00000507709.1:n.*624C>G
ENST00000683169.1:n.1877C>G
ENST00000683414.1:c.853C>G ENSP00000508335.1:p.Gln285Glu
ENST00000683527.1:c.*677C>G ENSP00000507253.1:n.*677C>G
ENST00000683539.1:c.853C>G ENSP00000507466.1:p.Gln285Glu
ENST00000684456.1:c.310C>G ENSP00000508060.1:p.Gln104Glu
ENST00000684521.1:c.1240C>G ENSP00000507521.1:p.Gln414Glu
ENST00000684695.1:n.3648C>G
ENST00000306320.10:c.1378C>G MANE Select ENSP00000304642.9:p.Gln460Glu
ENST00000306320.9:c.1378C>G ENSP00000304642.9:p.Gln460Glu
ENST00000399793.6:c.955C>G ENSP00000382691.2:p.Gln319Glu
ENST00000510362.5:c.537C>G
NM_001034850.2:c.1378C>G , LRG_363t1:c.1378C>G NP_001030022.1:p.Gln460Glu
NM_019000.4:c.955C>G NP_061873.2:p.Gln319Glu
XM_011514053.1:c.1498C>G XP_011512355.1:p.Gln500Glu
XM_011514054.1:c.1075C>G XP_011512356.1:p.Gln359Glu
XM_011514055.1:c.979C>G XP_011512357.1:p.Gln327Glu
XM_011514053.3:c.1498C>G XP_011512355.1:p.Gln500Glu
XM_011514054.2:c.1075C>G XP_011512356.1:p.Gln359Glu
XM_011514055.3:c.979C>G XP_011512357.1:p.Gln327Glu
XM_024446117.1:c.853C>G XP_024301885.1:p.Gln285Glu
XM_024446118.1:c.853C>G XP_024301886.1:p.Gln285Glu
NM_001034850.3:c.1378C>G MANE Select NP_001030022.1:p.Gln460Glu
NM_019000.5:c.955C>G NP_061873.2:p.Gln319Glu