Canonical Allele Identifier: CA114976564

Gene: RETREG1 RETREG1-AS1

Linked Data

• ClinVar Variation Id: 2402575
• ClinVar RCV Id: RCV002764189
• dbSNP Id: rs550339729
• gnomAD v2: 5-16617068-C-T
• gnomAD v3: 5-16616959-C-T
• gnomAD v4: 5-16616959-C-T
• MyVariant Identifiers: chr5:g.16617068C>T (hg19) ; chr5:g.16616959C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16616959C>T , CM000667.2:g.16616959C>T	GRCh38
NC_000005.9:g.16617068C>T , CM000667.1:g.16617068C>T	GRCh37
NC_000005.8:g.16670068C>T	NCBI36
NG_016644.2:g.5051G>A , LRG_363:g.5051G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509048.2:n.43G>A (RETREG1)
ENST00000682229.1:c.13G>A (RETREG1)	ENSP00000507342.1:p.Ala5Thr
ENST00000682564.1:c.13G>A (RETREG1)	ENSP00000508099.1:p.Ala5Thr
ENST00000682808.1:n.80G>A (RETREG1)
ENST00000682828.1:n.10G>A (RETREG1)
ENST00000682982.1:n.36G>A (RETREG1)
ENST00000683045.1:n.39G>A (RETREG1)
ENST00000683527.1:c.13G>A (RETREG1)	ENSP00000507253.1:p.Ala5Thr
ENST00000683973.1:n.39G>A (RETREG1)
ENST00000684521.1:c.13G>A (RETREG1)	ENSP00000507521.1:p.Ala5Thr
ENST00000684695.1:n.31G>A (RETREG1)
ENST00000306320.10:c.13G>A (RETREG1) MANE Select	ENSP00000304642.9:p.Ala5Thr
ENST00000306320.9:c.13G>A (RETREG1)	ENSP00000304642.9:p.Ala5Thr
ENST00000509048.1:n.80G>A (RETREG1)
NM_001034850.2:c.13G>A , LRG_363t1:c.13G>A (RETREG1)	NP_001030022.1:p.Ala5Thr
NR_109946.1:n.561+473C>T (RETREG1-AS1)
XM_011514053.1:c.13G>A (RETREG1)	XP_011512355.1:p.Ala5Thr
XM_011514053.3:c.13G>A (RETREG1)	XP_011512355.1:p.Ala5Thr
NM_001034850.3:c.13G>A (RETREG1) MANE Select	NP_001030022.1:p.Ala5Thr