Canonical Allele Identifier: CA1529684575
Community Standard Title: NM_001034850.3(RETREG1):c.926C= (p.Ser309=)
Gene: RETREG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.16477736G= , CM000667.2:g.16477736G= GRCh38
NC_000005.9:g.16477845G= , CM000667.1:g.16477845G= GRCh37
NC_000005.8:g.16530845G= NCBI36
NG_016644.2:g.144274C= , LRG_363:g.144274C=

Transcript Alleles

HGVS Amino-acid Change
NM_001034850.3:c.926C= MANE Select NP_001030022.1:p.Ser309=
ENST00000306320.10:c.926C= MANE Select ENSP00000304642.9:p.Ser309=
NM_001034850.2:c.926C= , LRG_363t1:c.926C= NP_001030022.1:p.Ser309=
NM_019000.4:c.503C= NP_061873.2:p.Ser168=
NM_019000.5:c.503C= NP_061873.2:p.Ser168=
ENST00000306320.9:c.926C= ENSP00000304642.9:p.Ser309=
ENST00000399793.6:c.503C= ENSP00000382691.2:p.Ser168=
ENST00000509977.1:n.562C=
ENST00000509977.2:n.574C=
ENST00000510362.5:c.85C=
ENST00000510362.6:c.401C= ENSP00000425089.2:p.Ser134=
ENST00000682033.1:c.127-2502C=
ENST00000682142.1:c.623C= ENSP00000506804.1:p.Ser208=
ENST00000682229.1:c.1082C= ENSP00000507342.1:p.Ser361=
ENST00000682564.1:c.923C= ENSP00000508099.1:p.Ser308=
ENST00000682628.1:c.401C= ENSP00000507536.1:p.Ser134=
ENST00000682982.1:n.1700C=
ENST00000683045.1:n.5470C=
ENST00000683130.1:c.*172C= ENSP00000507709.1:n.*172C=
ENST00000683169.1:n.1425C=
ENST00000683414.1:c.401C= ENSP00000508335.1:p.Ser134=
ENST00000683527.1:c.*225C= ENSP00000507253.1:n.*225C=
ENST00000683539.1:c.401C= ENSP00000507466.1:p.Ser134=
ENST00000684456.1:c.-143C= ENSP00000508060.1:n.-143C=
ENST00000684521.1:c.788C= ENSP00000507521.1:p.Ser263=
ENST00000684695.1:n.3196C=
XM_011514053.1:c.1046C= XP_011512355.1:p.Ser349=
XM_011514053.3:c.1046C= XP_011512355.1:p.Ser349=
XM_011514054.1:c.623C= XP_011512356.1:p.Ser208=
XM_011514054.2:c.623C= XP_011512356.1:p.Ser208=
XM_011514055.1:c.527C= XP_011512357.1:p.Ser176=
XM_011514055.3:c.527C= XP_011512357.1:p.Ser176=
XM_024446117.1:c.401C= XP_024301885.1:p.Ser134=
XM_024446118.1:c.401C= XP_024301886.1:p.Ser134=