Canonical Allele Identifier: CA3210467

Gene: RETREG1

Linked Data

• ClinVar Variation Id: 352694
• ClinVar RCV Id: RCV000278018 ; RCV000419731 ; RCV000534973 ; RCV002461102
• dbSNP Id: rs61741225
• ExAC: 5:16565892 C / T
• gnomAD v2: 5-16565892-C-T
• gnomAD v3: 5-16565783-C-T
• gnomAD v4: 5-16565783-C-T
• MyVariant Identifiers: chr5:g.16565892C>T (hg19) ; chr5:g.16565783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16565783C>T , CM000667.2:g.16565783C>T	GRCh38
NC_000005.9:g.16565892C>T , CM000667.1:g.16565892C>T	GRCh37
NC_000005.8:g.16618892C>T	NCBI36
NG_016644.2:g.56227G>A , LRG_363:g.56227G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682033.1:c.106G>A
ENST00000682229.1:c.438G>A	ENSP00000507342.1:p.Leu146=
ENST00000682564.1:c.438G>A	ENSP00000508099.1:p.Leu146=
ENST00000682828.1:n.435G>A
ENST00000682982.1:n.461G>A
ENST00000683045.1:n.464G>A
ENST00000683527.1:c.438G>A	ENSP00000507253.1:p.Leu146=
ENST00000684521.1:c.320+50869G>A	ENSP00000507521.1:n.320+50869G>A
ENST00000684695.1:n.456G>A
ENST00000306320.10:c.438G>A MANE Select	ENSP00000304642.9:p.Leu146=
ENST00000306320.9:c.438G>A	ENSP00000304642.9:p.Leu146=
NM_001034850.2:c.438G>A , LRG_363t1:c.438G>A	NP_001030022.1:p.Leu146=
XM_011514053.1:c.438G>A	XP_011512355.1:p.Leu146=
XM_011514053.3:c.438G>A	XP_011512355.1:p.Leu146=
NM_001034850.3:c.438G>A MANE Select	NP_001030022.1:p.Leu146=