Canonical Allele Identifier: CA1580462890
Community Standard Title: NM_001182.5(ALDH7A1):c.177G= (p.Trp59=)
Gene: ALDH7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126595022C= , CM000667.2:g.126595022C= GRCh38
NC_000005.9:g.125930714C= , CM000667.1:g.125930714C= GRCh37
NC_000005.8:g.125958613C= NCBI36
NG_008600.2:g.5369G=
NG_008600.3:g.5369G=

Transcript Alleles

HGVS Amino-acid Change
NM_001182.5:c.177G= MANE Select NP_001173.2:p.Trp59=
ENST00000409134.8:c.177G= MANE Select ENSP00000387123.3:p.Trp59=
NM_001182.4:c.177G= NP_001173.2:p.Trp59=
NM_001201377.1:c.93G= NP_001188306.1:p.Trp31=
NM_001201377.2:c.93G= NP_001188306.1:p.Trp31=
NM_001202404.1:c.258G= NP_001189333.1:p.Trp86=
NM_001202404.2:c.177G= NP_001189333.2:p.Trp59=
ENST00000409134.7:c.177G= ENSP00000387123.3:p.Trp59=
ENST00000412186.1:c.177G= ENSP00000414536.1:p.Trp59=
ENST00000412186.2:c.177G= ENSP00000414536.2:p.Trp59=
ENST00000413020.5:c.177G= ENSP00000487936.1:p.Trp59=
ENST00000413020.6:c.177G= ENSP00000487936.1:p.Trp59=
ENST00000447989.6:c.258G= ENSP00000414132.2:p.Trp86=
ENST00000458249.5:c.177G= ENSP00000403929.1:p.Trp59=
ENST00000458249.6:c.177G= ENSP00000403929.1:p.Trp59=
ENST00000503281.5:c.91G=
ENST00000503281.6:c.91G=
ENST00000509270.1:c.177G= ENSP00000449318.1:p.Trp59=
ENST00000509270.2:c.177G= ENSP00000449318.2:p.Trp59=
ENST00000509459.5:c.50G=
ENST00000509459.6:c.50G=
ENST00000510111.6:c.171G= ENSP00000447388.1:p.Trp57=
ENST00000511266.5:n.132G=
ENST00000553117.5:c.177G= ENSP00000448593.1:p.Trp59=
ENST00000635851.1:c.175G=
ENST00000635933.1:n.206G=
ENST00000636062.1:n.72G=
ENST00000636190.1:n.56G=
ENST00000636225.1:c.177G= ENSP00000490797.1:p.Trp59=
ENST00000636743.1:c.177G= ENSP00000489725.1:p.Trp59=
ENST00000636808.1:c.177G= ENSP00000490833.1:p.Trp59=
ENST00000636872.1:c.177G= ENSP00000490919.1:p.Trp59=
ENST00000636879.1:c.177G= ENSP00000490811.1:p.Trp59=
ENST00000636886.1:c.177G= ENSP00000490371.1:p.Trp59=
ENST00000637206.1:c.177G= ENSP00000489895.1:p.Trp59=
ENST00000637272.1:c.177G= ENSP00000489686.1:p.Trp59=
ENST00000637782.1:c.177G= ENSP00000490024.1:p.Trp59=
ENST00000637964.1:c.177G= ENSP00000490291.1:p.Trp59=
ENST00000638008.1:c.177G= ENSP00000490400.1:p.Trp59=