Canonical Allele Identifier: CA1974101

Gene: WIPF1

Linked Data

• ClinVar Variation Id: 403608
• ClinVar RCV Id: RCV000455771 ; RCV000986931
• dbSNP Id: rs4972450
• ExAC: 2:175436940 G / A
• gnomAD v2: 2-175436940-G-A
• gnomAD v3: 2-174572212-G-A
• gnomAD v4: 2-174572212-G-A
• MyVariant Identifiers: chr2:g.175436940G>A (hg19) ; chr2:g.174572212G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174572212G>A , CM000664.2:g.174572212G>A	GRCh38
NC_000002.11:g.175436940G>A , CM000664.1:g.175436940G>A	GRCh37
NC_000002.10:g.175145186G>A	NCBI36
NG_032009.1:g.115688C>T , LRG_374:g.115688C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436221.2:c.593C>T	ENSP00000388454.2:p.Pro198Leu
ENST00000698666.1:n.598C>T
ENST00000698667.1:c.593C>T	ENSP00000513868.1:p.Pro198Leu
ENST00000698668.1:c.593C>T	ENSP00000513869.1:p.Pro198Leu
ENST00000698701.1:c.593C>T	ENSP00000513882.1:p.Pro198Leu
ENST00000679041.1:c.593C>T MANE Select	ENSP00000503603.1:p.Pro198Leu
ENST00000272746.9:c.593C>T	ENSP00000272746.5:p.Pro198Leu
ENST00000359761.7:c.593C>T	ENSP00000352802.3:p.Pro198Leu
ENST00000392546.6:c.593C>T	ENSP00000376329.2:p.Pro198Leu
ENST00000392547.6:c.593C>T	ENSP00000376330.2:p.Pro198Leu
ENST00000409415.7:c.593C>T	ENSP00000387150.3:p.Pro198Leu
ENST00000409891.5:c.593C>T	ENSP00000386431.1:p.Pro198Leu
ENST00000610916.4:c.593C>T	ENSP00000479992.1:p.Pro198Leu
NM_001077269.1:c.593C>T , LRG_374t1:c.593C>T	NP_001070737.1:p.Pro198Leu
NM_003387.4:c.593C>T	NP_003378.3:p.Pro198Leu
XM_011511780.1:c.593C>T	XP_011510082.1:p.Pro198Leu
XM_011511781.1:c.593C>T	XP_011510083.1:p.Pro198Leu
XM_011511780.3:c.593C>T	XP_011510082.1:p.Pro198Leu
NM_001375832.1:c.593C>T	NP_001362761.1:p.Pro198Leu
NM_001375833.1:c.593C>T	NP_001362762.1:p.Pro198Leu
NM_001375834.1:c.593C>T MANE Select	NP_001362763.1:p.Pro198Leu
NM_001375835.1:c.593C>T	NP_001362764.1:p.Pro198Leu
NM_001375836.1:c.593C>T	NP_001362765.1:p.Pro198Leu
NM_001375837.1:c.593C>T	NP_001362766.1:p.Pro198Leu
NM_001375838.1:c.593C>T	NP_001362767.1:p.Pro198Leu
NM_001375839.1:c.215C>T	NP_001362768.1:p.Pro72Leu
NM_003387.5:c.593C>T	NP_003378.3:p.Pro198Leu