Canonical Allele Identifier: CA3210392

Gene: RETREG1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16481072C>T , CM000667.2:g.16481072C>T	GRCh38
NC_000005.9:g.16481181C>T , CM000667.1:g.16481181C>T	GRCh37
NC_000005.8:g.16534181C>T	NCBI36
NG_016644.2:g.140938G>A , LRG_363:g.140938G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509977.2:n.255G>A
ENST00000510362.6:c.82G>A	ENSP00000425089.2:p.Val28Met
ENST00000682033.1:c.127-5838G>A
ENST00000682142.1:c.304G>A	ENSP00000506804.1:p.Val102Met
ENST00000682229.1:c.763G>A	ENSP00000507342.1:p.Val255Met
ENST00000682564.1:c.607G>A	ENSP00000508099.1:p.Val203Met
ENST00000682628.1:c.82G>A	ENSP00000507536.1:p.Val28Met
ENST00000682982.1:n.630G>A
ENST00000683045.1:n.2885G>A
ENST00000683130.1:c.57G>A	ENSP00000507709.1:p.Val19=
ENST00000683414.1:c.82G>A	ENSP00000508335.1:p.Val28Met
ENST00000683527.1:c.587G>A	ENSP00000507253.1:p.Cys196Tyr
ENST00000683539.1:c.82G>A	ENSP00000507466.1:p.Val28Met
ENST00000684456.1:c.-398-2085G>A	ENSP00000508060.1:n.-398-2085G>A
ENST00000684521.1:c.469G>A	ENSP00000507521.1:p.Val157Met
ENST00000684695.1:n.2877G>A
ENST00000306320.10:c.607G>A MANE Select	ENSP00000304642.9:p.Val203Met
ENST00000306320.9:c.607G>A	ENSP00000304642.9:p.Val203Met
ENST00000399793.6:c.184G>A	ENSP00000382691.2:p.Val62Met
ENST00000509977.1:n.243G>A
NM_001034850.2:c.607G>A , LRG_363t1:c.607G>A	NP_001030022.1:p.Val203Met
NM_019000.4:c.184G>A	NP_061873.2:p.Val62Met
XM_011514053.1:c.727G>A	XP_011512355.1:p.Val243Met
XM_011514054.1:c.304G>A	XP_011512356.1:p.Val102Met
XM_011514055.1:c.208G>A	XP_011512357.1:p.Val70Met
XM_011514053.3:c.727G>A	XP_011512355.1:p.Val243Met
XM_011514054.2:c.304G>A	XP_011512356.1:p.Val102Met
XM_011514055.3:c.208G>A	XP_011512357.1:p.Val70Met
XM_024446117.1:c.82G>A	XP_024301885.1:p.Val28Met
XM_024446118.1:c.82G>A	XP_024301886.1:p.Val28Met
NM_001034850.3:c.607G>A MANE Select	NP_001030022.1:p.Val203Met
NM_019000.5:c.184G>A	NP_061873.2:p.Val62Met