Canonical Allele Identifier: CA60843032

Gene: WIPF1

Linked Data

• dbSNP Id: rs546654911
• gnomAD v3: 2-174571817-C-T
• gnomAD v4: 2-174571817-C-T
• COSMIC: COSM1582491 ; COSM3895373 ; COSM3895374
• MyVariant Identifiers: chr2:g.175436545C>T (hg19) ; chr2:g.174571817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174571817C>T , CM000664.2:g.174571817C>T	GRCh38
NC_000002.11:g.175436545C>T , CM000664.1:g.175436545C>T	GRCh37
NC_000002.10:g.175144791C>T	NCBI36
NG_032009.1:g.116083G>A , LRG_374:g.116083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436221.2:c.988G>A	ENSP00000388454.2:p.Glu330Lys
ENST00000698666.1:n.993G>A
ENST00000698667.1:c.988G>A	ENSP00000513868.1:p.Glu330Lys
ENST00000698668.1:c.988G>A	ENSP00000513869.1:p.Glu330Lys
ENST00000698701.1:c.988G>A	ENSP00000513882.1:p.Glu330Lys
ENST00000679041.1:c.988G>A MANE Select	ENSP00000503603.1:p.Glu330Lys
ENST00000272746.9:c.988G>A	ENSP00000272746.5:p.Glu330Lys
ENST00000359761.7:c.988G>A	ENSP00000352802.3:p.Glu330Lys
ENST00000392546.6:c.988G>A	ENSP00000376329.2:p.Glu330Lys
ENST00000392547.6:c.988G>A	ENSP00000376330.2:p.Glu330Lys
ENST00000409415.7:c.988G>A	ENSP00000387150.3:p.Glu330Lys
ENST00000409891.5:c.988G>A	ENSP00000386431.1:p.Glu330Lys
ENST00000610916.4:c.985G>A	ENSP00000479992.1:p.Glu329Lys
NM_001077269.1:c.988G>A , LRG_374t1:c.988G>A	NP_001070737.1:p.Glu330Lys
NM_003387.4:c.988G>A	NP_003378.3:p.Glu330Lys
XM_011511780.1:c.988G>A	XP_011510082.1:p.Glu330Lys
XM_011511781.1:c.988G>A	XP_011510083.1:p.Glu330Lys
XM_011511780.3:c.988G>A	XP_011510082.1:p.Glu330Lys
NM_001375832.1:c.988G>A	NP_001362761.1:p.Glu330Lys
NM_001375833.1:c.988G>A	NP_001362762.1:p.Glu330Lys
NM_001375834.1:c.988G>A MANE Select	NP_001362763.1:p.Glu330Lys
NM_001375835.1:c.988G>A	NP_001362764.1:p.Glu330Lys
NM_001375836.1:c.988G>A	NP_001362765.1:p.Glu330Lys
NM_001375837.1:c.988G>A	NP_001362766.1:p.Glu330Lys
NM_001375838.1:c.988G>A	NP_001362767.1:p.Glu330Lys
NM_001375839.1:c.610G>A	NP_001362768.1:p.Glu204Lys
NM_003387.5:c.988G>A	NP_003378.3:p.Glu330Lys