Canonical Allele Identifier: CA3210287

Gene: RETREG1

Linked Data

• dbSNP Id: rs137852739
• ExAC: 5:16477845 G / A
• gnomAD v2: 5-16477845-G-A
• gnomAD v3: 5-16477736-G-A
• gnomAD v4: 5-16477736-G-A
• MyVariant Identifiers: chr5:g.16477845G>A (hg19) ; chr5:g.16477736G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000509977.2:n.574C>T
ENST00000510362.6:c.401C>T	ENSP00000425089.2:p.Ser134Leu
ENST00000682033.1:c.127-2502C>T
ENST00000682142.1:c.623C>T	ENSP00000506804.1:p.Ser208Leu
ENST00000682229.1:c.1082C>T	ENSP00000507342.1:p.Ser361Leu
ENST00000682564.1:c.923C>T	ENSP00000508099.1:p.Ser308Leu
ENST00000682628.1:c.401C>T	ENSP00000507536.1:p.Ser134Leu
ENST00000682982.1:n.1700C>T
ENST00000683045.1:n.5470C>T
ENST00000683130.1:c.*172C>T	ENSP00000507709.1:n.*172C>T
ENST00000683169.1:n.1425C>T
ENST00000683414.1:c.401C>T	ENSP00000508335.1:p.Ser134Leu
ENST00000683527.1:c.*225C>T	ENSP00000507253.1:n.*225C>T
ENST00000683539.1:c.401C>T	ENSP00000507466.1:p.Ser134Leu
ENST00000684456.1:c.-143C>T	ENSP00000508060.1:n.-143C>T
ENST00000684521.1:c.788C>T	ENSP00000507521.1:p.Ser263Leu
ENST00000684695.1:n.3196C>T
ENST00000306320.10:c.926C>T MANE Select	ENSP00000304642.9:p.Ser309Leu
ENST00000306320.9:c.926C>T	ENSP00000304642.9:p.Ser309Leu
ENST00000399793.6:c.503C>T	ENSP00000382691.2:p.Ser168Leu
ENST00000509977.1:n.562C>T
ENST00000510362.5:c.85C>T
NM_001034850.2:c.926C>T , LRG_363t1:c.926C>T	NP_001030022.1:p.Ser309Leu
NM_019000.4:c.503C>T	NP_061873.2:p.Ser168Leu
XM_011514053.1:c.1046C>T	XP_011512355.1:p.Ser349Leu
XM_011514054.1:c.623C>T	XP_011512356.1:p.Ser208Leu
XM_011514055.1:c.527C>T	XP_011512357.1:p.Ser176Leu
XM_011514053.3:c.1046C>T	XP_011512355.1:p.Ser349Leu
XM_011514054.2:c.623C>T	XP_011512356.1:p.Ser208Leu
XM_011514055.3:c.527C>T	XP_011512357.1:p.Ser176Leu
XM_024446117.1:c.401C>T	XP_024301885.1:p.Ser134Leu
XM_024446118.1:c.401C>T	XP_024301886.1:p.Ser134Leu
NM_001034850.3:c.926C>T MANE Select	NP_001030022.1:p.Ser309Leu
NM_019000.5:c.503C>T	NP_061873.2:p.Ser168Leu