Canonical Allele Identifier: CA2333965453
Community Standard Title: NM_001083961.2(WDR62):c.2030T= (p.Leu677=)
Gene: WDR62 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36090516T= , CM000681.2:g.36090516T= GRCh38
NC_000019.9:g.36581418T= , CM000681.1:g.36581418T= GRCh37
NC_000019.8:g.41273258T= NCBI36
NG_028101.1:g.40636T=

Transcript Alleles

HGVS Amino-acid Change
NM_001083961.2:c.2030T= MANE Select NP_001077430.1:p.Leu677=
ENST00000401500.7:c.2030T= MANE Select ENSP00000384792.1:p.Leu677=
NM_001083961.1:c.2030T= NP_001077430.1:p.Leu677=
NM_173636.4:c.2030T= NP_775907.4:p.Leu677=
NM_173636.5:c.2030T= NP_775907.4:p.Leu677=
ENST00000270301.11:c.2030T= ENSP00000270301.6:p.Leu677=
ENST00000270301.12:c.2030T= ENSP00000270301.6:p.Leu677=
ENST00000401500.6:c.2030T= ENSP00000384792.1:p.Leu677=
ENST00000587391.5:c.*720T= ENSP00000465525.1:n.*720T=
ENST00000587391.6:c.*720T= ENSP00000465525.1:n.*720T=
ENST00000679489.1:c.348T=
ENST00000679682.1:c.2015T= ENSP00000506226.1:p.Leu672=
ENST00000679714.1:c.2024T= ENSP00000506627.1:p.Leu675=
ENST00000679757.1:c.1679T= ENSP00000505158.1:p.Leu560=
ENST00000679858.1:c.*827T= ENSP00000505655.1:n.*827T=
ENST00000680349.1:n.13T=
ENST00000680377.1:c.480T=
ENST00000680403.1:c.2030T= ENSP00000505677.1:p.Leu677=
ENST00000680489.1:n.2353T=
ENST00000680564.1:c.2030T= ENSP00000505582.1:p.Leu677=
ENST00000680590.1:c.*429T= ENSP00000505350.1:n.*429T=
ENST00000680806.1:c.*859T= ENSP00000506418.1:n.*859T=
ENST00000680858.1:c.408+1210T=
ENST00000681302.1:c.480T=
ENST00000681625.1:c.2015T= ENSP00000505555.1:p.Leu672=
XM_005258809.2:c.2030T= XP_005258866.1:p.Leu677=
XM_011526837.1:c.2015T= XP_011525139.1:p.Leu672=
XM_011526838.1:c.2030T= XP_011525140.1:p.Leu677=
XM_011526839.1:c.1679T= XP_011525141.1:p.Leu560=
XM_011526840.1:c.1022T= XP_011525142.1:p.Leu341=
XM_011526840.2:c.1022T= XP_011525142.1:p.Leu341=
XM_011526841.1:c.608T= XP_011525143.1:p.Leu203=
XM_011526841.2:c.608T= XP_011525143.1:p.Leu203=
XM_011526842.1:c.461T= XP_011525144.1:p.Leu154=
XM_011526843.1:c.-48T= XP_011525145.1:n.-48T=
XM_017026665.1:c.2030T= XP_016882154.1:p.Leu677=
XR_001753671.1:n.2121T=
XR_001753672.1:n.2121T=