Canonical Allele Identifier: CA379959946
Community Standard Title: NM_024426.6(WT1):c.1184C>T (p.Pro395Leu)
Gene: WT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.32396337G>A , CM000673.2:g.32396337G>A GRCh38
NC_000011.9:g.32417883G>A , CM000673.1:g.32417883G>A GRCh37
NC_000011.8:g.32374459G>A NCBI36
NG_009272.1:g.44205C>T , LRG_525:g.44205C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024426.6:c.1184C>T MANE Select NP_077744.4:p.Pro395Leu
ENST00000452863.10:c.1184C>T MANE Select ENSP00000415516.5:p.Pro395Leu
NM_000378.4:c.1118C>T NP_000369.3:p.Pro373Leu
NM_000378.5:c.1133C>T NP_000369.4:p.Pro378Leu
NM_000378.6:c.1133C>T NP_000369.4:p.Pro378Leu
NM_001198551.1:c.533C>T , LRG_525t2:c.533C>T NP_001185480.1:p.Pro178Leu
NM_001198552.1:c.482C>T NP_001185481.1:p.Pro161Leu
NM_001198552.2:c.482C>T NP_001185481.1:p.Pro161Leu
NM_001367854.1:c.-5C>T NP_001354783.1:n.-5C>T
NM_024424.3:c.1169C>T NP_077742.2:p.Pro390Leu
NM_024424.4:c.1184C>T NP_077742.3:p.Pro395Leu
NM_024424.5:c.1184C>T NP_077742.3:p.Pro395Leu
NM_024426.4:c.1169C>T NP_077744.3:p.Pro390Leu
NM_024426.5:c.1184C>T NP_077744.4:p.Pro395Leu
NR_160306.1:n.1516C>T
ENST00000332351.7:c.1169C>T ENSP00000331327.3:p.Pro390Leu
ENST00000332351.9:c.1133C>T ENSP00000331327.5:p.Pro378Leu
ENST00000379077.7:c.*368C>T ENSP00000368368.3:n.*368C>T
ENST00000379077.9:c.*368C>T ENSP00000368368.5:n.*368C>T
ENST00000379079.6:c.533C>T ENSP00000368370.2:p.Pro178Leu
ENST00000379079.8:c.533C>T ENSP00000368370.2:p.Pro178Leu
ENST00000448076.7:c.1169C>T ENSP00000413452.3:p.Pro390Leu
ENST00000448076.9:c.1184C>T ENSP00000413452.5:p.Pro395Leu
ENST00000452863.7:c.1118C>T ENSP00000415516.3:p.Pro373Leu
ENST00000526685.1:c.-5C>T ENSP00000436292.1:n.-5C>T
ENST00000526685.2:n.638C>T
ENST00000527882.5:c.240C>T
ENST00000530998.5:c.482C>T ENSP00000435307.1:p.Pro161Leu
ENST00000639563.3:c.1133C>T ENSP00000492269.3:p.Pro378Leu
ENST00000639907.2:n.327C>T
ENST00000640146.2:c.509C>T ENSP00000491984.2:p.Pro170Leu
ENST00000650861.1:n.1765C>T
ENST00000651459.1:c.36-3582C>T
ENST00000651668.1:n.121C>T
ENST00000651794.1:n.927C>T
ENST00000651819.1:n.109C>T
ENST00000652579.1:n.344C>T
ENST00000652724.1:n.374C>T