Canonical Allele Identifier: CA251429

Gene: RETREG1

Linked Data

• ClinVar Variation Id: 328
• ClinVar RCV Id: RCV000000356 ; RCV000235652 ; RCV000789098 ; RCV003447062
• dbSNP Id: rs137852739
• gnomAD v4: 5-16477736-G-C
• MyVariant Identifiers: chr5:g.16477845G>C (hg19) ; chr5:g.16477736G>C (hg38)
• PubMed: PMID:19838196 ; PMID:21089229

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000509977.2:n.574C>G
ENST00000510362.6:c.401C>G	ENSP00000425089.2:p.Ser134Ter
ENST00000682033.1:c.127-2502C>G
ENST00000682142.1:c.623C>G	ENSP00000506804.1:p.Ser208Ter
ENST00000682229.1:c.1082C>G	ENSP00000507342.1:p.Ser361Ter
ENST00000682564.1:c.923C>G	ENSP00000508099.1:p.Ser308Ter
ENST00000682628.1:c.401C>G	ENSP00000507536.1:p.Ser134Ter
ENST00000682982.1:n.1700C>G
ENST00000683045.1:n.5470C>G
ENST00000683130.1:c.*172C>G	ENSP00000507709.1:n.*172C>G
ENST00000683169.1:n.1425C>G
ENST00000683414.1:c.401C>G	ENSP00000508335.1:p.Ser134Ter
ENST00000683527.1:c.*225C>G	ENSP00000507253.1:n.*225C>G
ENST00000683539.1:c.401C>G	ENSP00000507466.1:p.Ser134Ter
ENST00000684456.1:c.-143C>G	ENSP00000508060.1:n.-143C>G
ENST00000684521.1:c.788C>G	ENSP00000507521.1:p.Ser263Ter
ENST00000684695.1:n.3196C>G
ENST00000306320.10:c.926C>G MANE Select	ENSP00000304642.9:p.Ser309Ter
ENST00000306320.9:c.926C>G	ENSP00000304642.9:p.Ser309Ter
ENST00000399793.6:c.503C>G	ENSP00000382691.2:p.Ser168Ter
ENST00000509977.1:n.562C>G
ENST00000510362.5:c.85C>G
NM_001034850.2:c.926C>G , LRG_363t1:c.926C>G	NP_001030022.1:p.Ser309Ter
NM_019000.4:c.503C>G	NP_061873.2:p.Ser168Ter
XM_011514053.1:c.1046C>G	XP_011512355.1:p.Ser349Ter
XM_011514054.1:c.623C>G	XP_011512356.1:p.Ser208Ter
XM_011514055.1:c.527C>G	XP_011512357.1:p.Ser176Ter
XM_011514053.3:c.1046C>G	XP_011512355.1:p.Ser349Ter
XM_011514054.2:c.623C>G	XP_011512356.1:p.Ser208Ter
XM_011514055.3:c.527C>G	XP_011512357.1:p.Ser176Ter
XM_024446117.1:c.401C>G	XP_024301885.1:p.Ser134Ter
XM_024446118.1:c.401C>G	XP_024301886.1:p.Ser134Ter
NM_001034850.3:c.926C>G MANE Select	NP_001030022.1:p.Ser309Ter
NM_019000.5:c.503C>G	NP_061873.2:p.Ser168Ter