Canonical Allele Identifier: CA359293003

Gene: RETREG1 RETREG1-AS1

Linked Data

• dbSNP Id: rs1743532044
• gnomAD v3: 5-16616863-G-C
• gnomAD v4: 5-16616863-G-C
• MyVariant Identifiers: chr5:g.16616972G>C (hg19) ; chr5:g.16616863G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16616863G>C , CM000667.2:g.16616863G>C	GRCh38
NC_000005.9:g.16616972G>C , CM000667.1:g.16616972G>C	GRCh37
NC_000005.8:g.16669972G>C	NCBI36
NG_016644.2:g.5147C>G , LRG_363:g.5147C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509048.2:n.139C>G (RETREG1)
ENST00000682229.1:c.109C>G (RETREG1)	ENSP00000507342.1:p.Arg37Gly
ENST00000682564.1:c.109C>G (RETREG1)	ENSP00000508099.1:p.Arg37Gly
ENST00000682808.1:n.176C>G (RETREG1)
ENST00000682828.1:n.106C>G (RETREG1)
ENST00000682982.1:n.132C>G (RETREG1)
ENST00000683045.1:n.135C>G (RETREG1)
ENST00000683527.1:c.109C>G (RETREG1)	ENSP00000507253.1:p.Arg37Gly
ENST00000683973.1:n.135C>G (RETREG1)
ENST00000684521.1:c.109C>G (RETREG1)	ENSP00000507521.1:p.Arg37Gly
ENST00000684695.1:n.127C>G (RETREG1)
ENST00000306320.10:c.109C>G (RETREG1) MANE Select	ENSP00000304642.9:p.Arg37Gly
ENST00000306320.9:c.109C>G (RETREG1)	ENSP00000304642.9:p.Arg37Gly
ENST00000509048.1:n.176C>G (RETREG1)
NM_001034850.2:c.109C>G , LRG_363t1:c.109C>G (RETREG1)	NP_001030022.1:p.Arg37Gly
NR_109946.1:n.561+377G>C (RETREG1-AS1)
XM_011514053.1:c.109C>G (RETREG1)	XP_011512355.1:p.Arg37Gly
XM_011514053.3:c.109C>G (RETREG1)	XP_011512355.1:p.Arg37Gly
NM_001034850.3:c.109C>G (RETREG1) MANE Select	NP_001030022.1:p.Arg37Gly