Canonical Allele Identifier: CA3210549

Gene: RETREG1 RETREG1-AS1

Linked Data

• ClinVar Variation Id: 538124
• ClinVar RCV Id: RCV000647302 ; RCV001335568 ; RCV002461954
• dbSNP Id: rs759050645
• ExAC: 5:16617059 C / G
• gnomAD v2: 5-16617059-C-G
• gnomAD v3: 5-16616950-C-G
• gnomAD v4: 5-16616950-C-G
• MyVariant Identifiers: chr5:g.16617059C>G (hg19) ; chr5:g.16616950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16616950C>G , CM000667.2:g.16616950C>G	GRCh38
NC_000005.9:g.16617059C>G , CM000667.1:g.16617059C>G	GRCh37
NC_000005.8:g.16670059C>G	NCBI36
NG_016644.2:g.5060G>C , LRG_363:g.5060G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509048.2:n.52G>C (RETREG1)
ENST00000682229.1:c.22G>C (RETREG1)	ENSP00000507342.1:p.Glu8Gln
ENST00000682564.1:c.22G>C (RETREG1)	ENSP00000508099.1:p.Glu8Gln
ENST00000682808.1:n.89G>C (RETREG1)
ENST00000682828.1:n.19G>C (RETREG1)
ENST00000682982.1:n.45G>C (RETREG1)
ENST00000683045.1:n.48G>C (RETREG1)
ENST00000683527.1:c.22G>C (RETREG1)	ENSP00000507253.1:p.Glu8Gln
ENST00000683973.1:n.48G>C (RETREG1)
ENST00000684521.1:c.22G>C (RETREG1)	ENSP00000507521.1:p.Glu8Gln
ENST00000684695.1:n.40G>C (RETREG1)
ENST00000306320.10:c.22G>C (RETREG1) MANE Select	ENSP00000304642.9:p.Glu8Gln
ENST00000306320.9:c.22G>C (RETREG1)	ENSP00000304642.9:p.Glu8Gln
ENST00000509048.1:n.89G>C (RETREG1)
NM_001034850.2:c.22G>C , LRG_363t1:c.22G>C (RETREG1)	NP_001030022.1:p.Glu8Gln
NR_109946.1:n.561+464C>G (RETREG1-AS1)
XM_011514053.1:c.22G>C (RETREG1)	XP_011512355.1:p.Glu8Gln
XM_011514053.3:c.22G>C (RETREG1)	XP_011512355.1:p.Glu8Gln
NM_001034850.3:c.22G>C (RETREG1) MANE Select	NP_001030022.1:p.Glu8Gln