Canonical Allele Identifier: CA114976563

Gene: RETREG1 RETREG1-AS1

Linked Data

• ClinVar Variation Id: 538125
• ClinVar RCV Id: RCV000647303 ; RCV001158110 ; RCV002533337
• dbSNP Id: rs894277583
• gnomAD v2: 5-16617064-G-A
• gnomAD v3: 5-16616955-G-A
• gnomAD v4: 5-16616955-G-A
• MyVariant Identifiers: chr5:g.16617064G>A (hg19) ; chr5:g.16616955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16616955G>A , CM000667.2:g.16616955G>A	GRCh38
NC_000005.9:g.16617064G>A , CM000667.1:g.16617064G>A	GRCh37
NC_000005.8:g.16670064G>A	NCBI36
NG_016644.2:g.5055C>T , LRG_363:g.5055C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509048.2:n.47C>T (RETREG1)
ENST00000682229.1:c.17C>T (RETREG1)	ENSP00000507342.1:p.Pro6Leu
ENST00000682564.1:c.17C>T (RETREG1)	ENSP00000508099.1:p.Pro6Leu
ENST00000682808.1:n.84C>T (RETREG1)
ENST00000682828.1:n.14C>T (RETREG1)
ENST00000682982.1:n.40C>T (RETREG1)
ENST00000683045.1:n.43C>T (RETREG1)
ENST00000683527.1:c.17C>T (RETREG1)	ENSP00000507253.1:p.Pro6Leu
ENST00000683973.1:n.43C>T (RETREG1)
ENST00000684521.1:c.17C>T (RETREG1)	ENSP00000507521.1:p.Pro6Leu
ENST00000684695.1:n.35C>T (RETREG1)
ENST00000306320.10:c.17C>T (RETREG1) MANE Select	ENSP00000304642.9:p.Pro6Leu
ENST00000306320.9:c.17C>T (RETREG1)	ENSP00000304642.9:p.Pro6Leu
ENST00000509048.1:n.84C>T (RETREG1)
NM_001034850.2:c.17C>T , LRG_363t1:c.17C>T (RETREG1)	NP_001030022.1:p.Pro6Leu
NR_109946.1:n.561+469G>A (RETREG1-AS1)
XM_011514053.1:c.17C>T (RETREG1)	XP_011512355.1:p.Pro6Leu
XM_011514053.3:c.17C>T (RETREG1)	XP_011512355.1:p.Pro6Leu
NM_001034850.3:c.17C>T (RETREG1) MANE Select	NP_001030022.1:p.Pro6Leu