Canonical Allele Identifier: CA219471729
Community Standard Title: NM_024426.6(WT1):c.1463G>A (p.Ser488Asn)
Gene: WT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.32389164C>T , CM000673.2:g.32389164C>T GRCh38
NC_000011.9:g.32410710C>T , CM000673.1:g.32410710C>T GRCh37
NC_000011.8:g.32367286C>T NCBI36
NG_009272.1:g.51378G>A , LRG_525:g.51378G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024426.6:c.1463G>A MANE Select NP_077744.4:p.Ser488Asn
ENST00000452863.10:c.1463G>A MANE Select ENSP00000415516.5:p.Ser488Asn
NM_000378.4:c.1388G>A NP_000369.3:p.Ser463Asn
NM_000378.5:c.1403G>A NP_000369.4:p.Ser468Asn
NM_000378.6:c.1403G>A NP_000369.4:p.Ser468Asn
NM_001198551.1:c.803G>A , LRG_525t2:c.803G>A NP_001185480.1:p.Ser268Asn
NM_001198552.1:c.761G>A NP_001185481.1:p.Ser254Asn
NM_001198552.2:c.761G>A NP_001185481.1:p.Ser254Asn
NM_001367854.1:c.275G>A NP_001354783.1:p.Ser92Asn
NM_024424.3:c.1439G>A NP_077742.2:p.Ser480Asn
NM_024424.4:c.1454G>A NP_077742.3:p.Ser485Asn
NM_024424.5:c.1454G>A NP_077742.3:p.Ser485Asn
NM_024426.4:c.1448G>A NP_077744.3:p.Ser483Asn
NM_024426.5:c.1463G>A NP_077744.4:p.Ser488Asn
NR_160306.1:n.1795G>A
ENST00000332351.7:c.1448G>A ENSP00000331327.3:p.Ser483Asn
ENST00000332351.9:c.1403G>A ENSP00000331327.5:p.Ser468Asn
ENST00000379077.7:c.*647G>A ENSP00000368368.3:n.*647G>A
ENST00000379077.9:c.*647G>A ENSP00000368368.5:n.*647G>A
ENST00000379079.6:c.803G>A ENSP00000368370.2:p.Ser268Asn
ENST00000379079.8:c.803G>A ENSP00000368370.2:p.Ser268Asn
ENST00000448076.7:c.1439G>A ENSP00000413452.3:p.Ser480Asn
ENST00000448076.9:c.1454G>A ENSP00000413452.5:p.Ser485Asn
ENST00000452863.7:c.1388G>A ENSP00000415516.3:p.Ser463Asn
ENST00000526685.2:n.908G>A
ENST00000527882.5:c.429G>A
ENST00000530998.5:c.761G>A ENSP00000435307.1:p.Ser254Asn
ENST00000639563.3:c.1412G>A ENSP00000492269.3:p.Ser471Asn
ENST00000639907.2:n.597G>A
ENST00000640146.2:c.788G>A ENSP00000491984.2:p.Ser263Asn
ENST00000650745.1:n.1273G>A
ENST00000650861.1:n.2035G>A
ENST00000650986.1:n.126G>A
ENST00000651459.1:c.234G>A
ENST00000651533.1:n.500G>A
ENST00000651668.1:n.400G>A
ENST00000651794.1:n.1306G>A
ENST00000651819.1:n.388G>A
ENST00000652579.1:n.723G>A
ENST00000652724.1:n.653G>A