Canonical Allele Identifier: CA359292984

Gene: RETREG1 RETREG1-AS1

Linked Data

• gnomAD v4: 5-16616855-C-A
• MyVariant Identifiers: chr5:g.16616964C>A (hg19) ; chr5:g.16616855C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16616855C>A , CM000667.2:g.16616855C>A	GRCh38
NC_000005.9:g.16616964C>A , CM000667.1:g.16616964C>A	GRCh37
NC_000005.8:g.16669964C>A	NCBI36
NG_016644.2:g.5155G>T , LRG_363:g.5155G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509048.2:n.147G>T (RETREG1)
ENST00000682229.1:c.117G>T (RETREG1)	ENSP00000507342.1:p.Gln39His
ENST00000682564.1:c.117G>T (RETREG1)	ENSP00000508099.1:p.Gln39His
ENST00000682808.1:n.184G>T (RETREG1)
ENST00000682828.1:n.114G>T (RETREG1)
ENST00000682982.1:n.140G>T (RETREG1)
ENST00000683045.1:n.143G>T (RETREG1)
ENST00000683527.1:c.117G>T (RETREG1)	ENSP00000507253.1:p.Gln39His
ENST00000683973.1:n.143G>T (RETREG1)
ENST00000684521.1:c.117G>T (RETREG1)	ENSP00000507521.1:p.Gln39His
ENST00000684695.1:n.135G>T (RETREG1)
ENST00000306320.10:c.117G>T (RETREG1) MANE Select	ENSP00000304642.9:p.Gln39His
ENST00000306320.9:c.117G>T (RETREG1)	ENSP00000304642.9:p.Gln39His
ENST00000509048.1:n.184G>T (RETREG1)
NM_001034850.2:c.117G>T , LRG_363t1:c.117G>T (RETREG1)	NP_001030022.1:p.Gln39His
NR_109946.1:n.561+369C>A (RETREG1-AS1)
XM_011514053.1:c.117G>T (RETREG1)	XP_011512355.1:p.Gln39His
XM_011514053.3:c.117G>T (RETREG1)	XP_011512355.1:p.Gln39His
NM_001034850.3:c.117G>T (RETREG1) MANE Select	NP_001030022.1:p.Gln39His