Canonical Allele Identifier: CA3210325

Gene: RETREG1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16478091G>A , CM000667.2:g.16478091G>A	GRCh38
NC_000005.9:g.16478200G>A , CM000667.1:g.16478200G>A	GRCh37
NC_000005.8:g.16531200G>A	NCBI36
NG_016644.2:g.143919C>T , LRG_363:g.143919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509977.2:n.464C>T
ENST00000510362.6:c.291C>T	ENSP00000425089.2:p.Asp97=
ENST00000682033.1:c.127-2857C>T
ENST00000682142.1:c.513C>T	ENSP00000506804.1:p.Asp171=
ENST00000682229.1:c.972C>T	ENSP00000507342.1:p.Asp324=
ENST00000682564.1:c.813C>T	ENSP00000508099.1:p.Asp271=
ENST00000682628.1:c.291C>T	ENSP00000507536.1:p.Asp97=
ENST00000682982.1:n.1590C>T
ENST00000683045.1:n.5115C>T
ENST00000683130.1:c.*62C>T	ENSP00000507709.1:n.*62C>T
ENST00000683169.1:n.1315C>T
ENST00000683414.1:c.291C>T	ENSP00000508335.1:p.Asp97=
ENST00000683527.1:c.*115C>T	ENSP00000507253.1:n.*115C>T
ENST00000683539.1:c.291C>T	ENSP00000507466.1:p.Asp97=
ENST00000684456.1:c.-253C>T	ENSP00000508060.1:n.-253C>T
ENST00000684521.1:c.678C>T	ENSP00000507521.1:p.Asp226=
ENST00000684695.1:n.3086C>T
ENST00000306320.10:c.816C>T MANE Select	ENSP00000304642.9:p.Asp272=
ENST00000306320.9:c.816C>T	ENSP00000304642.9:p.Asp272=
ENST00000399793.6:c.393C>T	ENSP00000382691.2:p.Asp131=
ENST00000509977.1:n.452C>T
NM_001034850.2:c.816C>T , LRG_363t1:c.816C>T	NP_001030022.1:p.Asp272=
NM_019000.4:c.393C>T	NP_061873.2:p.Asp131=
XM_011514053.1:c.936C>T	XP_011512355.1:p.Asp312=
XM_011514054.1:c.513C>T	XP_011512356.1:p.Asp171=
XM_011514055.1:c.417C>T	XP_011512357.1:p.Asp139=
XM_011514053.3:c.936C>T	XP_011512355.1:p.Asp312=
XM_011514054.2:c.513C>T	XP_011512356.1:p.Asp171=
XM_011514055.3:c.417C>T	XP_011512357.1:p.Asp139=
XM_024446117.1:c.291C>T	XP_024301885.1:p.Asp97=
XM_024446118.1:c.291C>T	XP_024301886.1:p.Asp97=
NM_001034850.3:c.816C>T MANE Select	NP_001030022.1:p.Asp272=
NM_019000.5:c.393C>T	NP_061873.2:p.Asp131=