Canonical Allele Identifier: CA379961895
Community Standard Title: NM_024426.6(WT1):c.968T>C (p.Val323Ala)
Gene: WT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.32416538A>G , CM000673.2:g.32416538A>G GRCh38
NC_000011.9:g.32438084A>G , CM000673.1:g.32438084A>G GRCh37
NC_000011.8:g.32394660A>G NCBI36
NG_009272.1:g.24004T>C , LRG_525:g.24004T>C

Transcript Alleles

HGVS Amino-acid Change
NM_024426.6:c.968T>C MANE Select NP_077744.4:p.Val323Ala
ENST00000452863.10:c.968T>C MANE Select ENSP00000415516.5:p.Val323Ala
NM_000378.4:c.950+1039T>C NP_000369.3:n.950+1039T>C
NM_000378.5:c.965+1039T>C NP_000369.4:n.965+1039T>C
NM_000378.6:c.965+1039T>C NP_000369.4:n.965+1039T>C
NM_001198551.1:c.317T>C , LRG_525t2:c.317T>C NP_001185480.1:p.Val106Ala
NM_001198552.1:c.314+1039T>C NP_001185481.1:n.314+1039T>C
NM_001198552.2:c.314+1039T>C NP_001185481.1:n.314+1039T>C
NM_024424.3:c.953T>C NP_077742.2:p.Val318Ala
NM_024424.4:c.968T>C NP_077742.3:p.Val323Ala
NM_024424.5:c.968T>C NP_077742.3:p.Val323Ala
NM_024426.4:c.953T>C NP_077744.3:p.Val318Ala
NM_024426.5:c.968T>C NP_077744.4:p.Val323Ala
NR_160306.1:n.1300T>C
ENST00000332351.7:c.953T>C ENSP00000331327.3:p.Val318Ala
ENST00000332351.9:c.965+1039T>C ENSP00000331327.5:n.965+1039T>C
ENST00000379077.7:c.*152T>C ENSP00000368368.3:n.*152T>C
ENST00000379077.9:c.*152T>C ENSP00000368368.5:n.*152T>C
ENST00000379079.6:c.317T>C ENSP00000368370.2:p.Val106Ala
ENST00000379079.8:c.317T>C ENSP00000368370.2:p.Val106Ala
ENST00000448076.7:c.953T>C ENSP00000413452.3:p.Val318Ala
ENST00000448076.9:c.968T>C ENSP00000413452.5:p.Val323Ala
ENST00000452863.7:c.950+1039T>C ENSP00000415516.3:n.950+1039T>C
ENST00000527775.1:c.206T>C ENSP00000435351.1:p.Val69Ala
ENST00000527882.5:c.24T>C
ENST00000530998.5:c.314+1039T>C ENSP00000435307.1:n.314+1039T>C
ENST00000639563.3:c.965+1039T>C ENSP00000492269.3:n.965+1039T>C
ENST00000640146.2:c.341+1039T>C ENSP00000491984.2:n.341+1039T>C
ENST00000651794.1:n.711T>C