Canonical Allele Identifier: CA3071928959
Community Standard Title: NM_001367561.1(DOCK7):c.5049T= (p.Ser1683=)
Gene: DOCK7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62494443A= , CM000663.2:g.62494443A= GRCh38
NC_000001.10:g.62960114A= , CM000663.1:g.62960114A= GRCh37
NC_000001.9:g.62732702A= NCBI36
NG_033073.1:g.198926T=
NG_033073.2:g.198926T=

Transcript Alleles

HGVS Amino-acid Change
NM_001367561.1:c.5049T= MANE Select NP_001354490.1:p.Ser1683=
ENST00000635253.2:c.5049T= MANE Select ENSP00000489124.1:p.Ser1683=
NM_001271999.1:c.5022T= NP_001258928.1:p.Ser1674=
NM_001271999.2:c.5022T= NP_001258928.1:p.Ser1674=
NM_001272000.1:c.4929T= NP_001258929.1:p.Ser1643=
NM_001272000.2:c.4929T= NP_001258929.1:p.Ser1643=
NM_001272001.1:c.4929T= NP_001258930.1:p.Ser1643=
NM_001272001.2:c.4929T= NP_001258930.1:p.Ser1643=
NM_001330614.1:c.5022T= NP_001317543.1:p.Ser1674=
NM_001330614.2:c.5022T= NP_001317543.1:p.Ser1674=
NM_033407.3:c.4956T= NP_212132.2:p.Ser1652=
NM_033407.4:c.4956T= NP_212132.2:p.Ser1652=
ENST00000251157.10:c.5022T= ENSP00000251157.6:p.Ser1674=
ENST00000340370.10:c.4956T= ENSP00000340742.5:p.Ser1652=
ENST00000454575.6:c.5022T= ENSP00000413583.2:p.Ser1674=
ENST00000479983.1:n.856T=
ENST00000634264.1:c.4929T= ENSP00000489284.1:p.Ser1643=
ENST00000635123.1:c.4929T= ENSP00000489499.1:p.Ser1643=
ENST00000635253.1:c.5049T= ENSP00000489124.1:p.Ser1683=
ENST00000635983.1:n.1459T=
ENST00000637208.1:c.*3142T= ENSP00000490079.1:n.*3142T=
ENST00000637255.1:c.2322T= ENSP00000490888.1:p.Ser774=
XM_005271292.1:c.5022T= XP_005271349.1:p.Ser1674=
XM_011542326.1:c.5049T= XP_011540628.1:p.Ser1683=
XM_011542326.2:c.5049T= XP_011540628.1:p.Ser1683=
XM_011542327.1:c.5049T= XP_011540629.1:p.Ser1683=
XM_011542327.2:c.5049T= XP_011540629.1:p.Ser1683=
XM_011542328.1:c.5049T= XP_011540630.1:p.Ser1683=
XM_011542328.2:c.5049T= XP_011540630.1:p.Ser1683=
XM_011542329.1:c.5049T= XP_011540631.1:p.Ser1683=
XM_011542330.1:c.5049T= XP_011540632.1:p.Ser1683=
XM_011542330.2:c.5049T= XP_011540632.1:p.Ser1683=
XM_017002639.1:c.4956T= XP_016858128.1:p.Ser1652=
XM_017002640.1:c.5049T= XP_016858129.1:p.Ser1683=