Canonical Allele Identifier: CA443418178
Gene: RETREG1 HGNC NCBI
RETREG1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 5-16616861-C-A
MyVariant Identifiers: chr5:g.16616970C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.16616861C>A , CM000667.2:g.16616861C>A GRCh38
NC_000005.9:g.16616970C>A , CM000667.1:g.16616970C>A GRCh37
NC_000005.8:g.16669970C>A NCBI36
NG_016644.2:g.5149G>T , LRG_363:g.5149G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000509048.2:n.141G>T (RETREG1)
ENST00000682229.1:c.111G>T (RETREG1) ENSP00000507342.1:p.Arg37=
ENST00000682564.1:c.111G>T (RETREG1) ENSP00000508099.1:p.Arg37=
ENST00000682808.1:n.178G>T (RETREG1)
ENST00000682828.1:n.108G>T (RETREG1)
ENST00000682982.1:n.134G>T (RETREG1)
ENST00000683045.1:n.137G>T (RETREG1)
ENST00000683527.1:c.111G>T (RETREG1) ENSP00000507253.1:p.Arg37=
ENST00000683973.1:n.137G>T (RETREG1)
ENST00000684521.1:c.111G>T (RETREG1) ENSP00000507521.1:p.Arg37=
ENST00000684695.1:n.129G>T (RETREG1)
ENST00000306320.10:c.111G>T (RETREG1) MANE Select ENSP00000304642.9:p.Arg37=
ENST00000306320.9:c.111G>T (RETREG1) ENSP00000304642.9:p.Arg37=
ENST00000509048.1:n.178G>T (RETREG1)
NM_001034850.2:c.111G>T , LRG_363t1:c.111G>T (RETREG1) NP_001030022.1:p.Arg37=
NR_109946.1:n.561+375C>A (RETREG1-AS1)
XM_011514053.1:c.111G>T (RETREG1) XP_011512355.1:p.Arg37=
XM_011514053.3:c.111G>T (RETREG1) XP_011512355.1:p.Arg37=
NM_001034850.3:c.111G>T (RETREG1) MANE Select NP_001030022.1:p.Arg37=