Canonical Allele Identifier: CA446283953

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577081G>T , CM000667.2:g.126577081G>T	GRCh38
NC_000005.9:g.125912773G>T , CM000667.1:g.125912773G>T	GRCh37
NC_000005.8:g.125940672G>T	NCBI36
NG_008600.2:g.23310C>A
NG_008600.3:g.23310C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.648C>A MANE Select	ENSP00000387123.3:p.Leu216=
ENST00000412186.2:c.524C>A	ENSP00000414536.2:n.524C>A
ENST00000413020.6:c.648C>A	ENSP00000487936.1:p.Leu216=
ENST00000458249.6:c.*557C>A	ENSP00000403929.1:n.*557C>A
ENST00000503281.6:c.237C>A
ENST00000509459.6:c.196C>A
ENST00000511266.6:n.1370C>A
ENST00000635851.1:c.646C>A
ENST00000636062.1:n.543C>A
ENST00000636225.1:c.*457C>A	ENSP00000490797.1:n.*457C>A
ENST00000636286.1:n.366C>A
ENST00000636743.1:c.528C>A	ENSP00000489725.1:p.Leu176=
ENST00000636808.1:c.*457C>A	ENSP00000490833.1:n.*457C>A
ENST00000636872.1:c.808C>A	ENSP00000490919.1:n.808C>A
ENST00000636879.1:c.693C>A	ENSP00000490811.1:p.Leu231=
ENST00000636886.1:c.447C>A	ENSP00000490371.1:p.Leu149=
ENST00000637206.1:c.648C>A	ENSP00000489895.1:p.Leu216=
ENST00000637272.1:c.648C>A	ENSP00000489686.1:p.Leu216=
ENST00000637292.1:c.301C>A
ENST00000637782.1:c.648C>A	ENSP00000490024.1:p.Leu216=
ENST00000637964.1:c.594C>A	ENSP00000490291.1:p.Leu198=
ENST00000638008.1:c.*590C>A	ENSP00000490400.1:n.*590C>A
ENST00000409134.7:c.648C>A	ENSP00000387123.3:p.Leu216=
ENST00000413020.5:c.648C>A	ENSP00000487936.1:p.Leu216=
ENST00000433026.5:n.175C>A
ENST00000447989.6:c.729C>A	ENSP00000414132.2:p.Leu243=
ENST00000458249.5:c.808C>A	ENSP00000403929.1:n.808C>A
ENST00000503281.5:c.237C>A
ENST00000509459.5:c.196C>A
ENST00000510111.6:c.561C>A	ENSP00000447388.1:p.Leu187=
ENST00000511266.5:n.479C>A
ENST00000553117.5:c.648C>A	ENSP00000448593.1:p.Leu216=
NM_001182.4:c.648C>A	NP_001173.2:p.Leu216=
NM_001201377.1:c.564C>A	NP_001188306.1:p.Leu188=
NM_001202404.1:c.729C>A	NP_001189333.1:p.Leu243=
XM_011543417.1:c.243C>A	XP_011541719.1:p.Leu81=
XM_011543417.2:c.243C>A	XP_011541719.1:p.Leu81=
NM_001182.5:c.648C>A MANE Select	NP_001173.2:p.Leu216=
NM_001201377.2:c.564C>A	NP_001188306.1:p.Leu188=
NM_001202404.2:c.648C>A	NP_001189333.2:p.Leu216=