Canonical Allele Identifier: CA3210555

Gene: RETREG1 RETREG1-AS1

Linked Data

• ClinVar Variation Id: 286856
• ClinVar RCV Id: RCV000303542 ; RCV001286758
• dbSNP Id: rs35003
• ExAC: 5:16617099 A / G
• gnomAD v2: 5-16617099-A-G
• gnomAD v3: 5-16616990-A-G
• gnomAD v4: 5-16616990-A-G
• MyVariant Identifiers: chr5:g.16617099A>G (hg19) ; chr5:g.16616990A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16616990A>G , CM000667.2:g.16616990A>G	GRCh38
NC_000005.9:g.16617099A>G , CM000667.1:g.16617099A>G	GRCh37
NC_000005.8:g.16670099A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509048.2:n.12T>C (RETREG1)
ENST00000682229.1:c.-19T>C (RETREG1)	ENSP00000507342.1:n.-19T>C
ENST00000682564.1:c.-19T>C (RETREG1)	ENSP00000508099.1:n.-19T>C
ENST00000682808.1:n.49T>C (RETREG1)
ENST00000682982.1:n.5T>C (RETREG1)
ENST00000683045.1:n.8T>C (RETREG1)
ENST00000683527.1:c.-19T>C (RETREG1)	ENSP00000507253.1:n.-19T>C
ENST00000683973.1:n.8T>C (RETREG1)
ENST00000684521.1:c.-19T>C (RETREG1)	ENSP00000507521.1:n.-19T>C
ENST00000306320.10:c.-19T>C (RETREG1) MANE Select	ENSP00000304642.9:n.-19T>C
ENST00000306320.9:c.-19T>C (RETREG1)	ENSP00000304642.9:n.-19T>C
ENST00000509048.1:n.49T>C (RETREG1)
NR_109946.1:n.561+504A>G (RETREG1-AS1)
XM_011514053.1:c.-19T>C (RETREG1)	XP_011512355.1:n.-19T>C
XM_011514053.3:c.-19T>C (RETREG1)	XP_011512355.1:n.-19T>C
NM_001034850.3:c.-19T>C (RETREG1) MANE Select	NP_001030022.1:n.-19T>C