Canonical Allele Identifier: CA1580455199

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577158T= , CM000667.2:g.126577158T=	GRCh38
NC_000005.9:g.125912850T= , CM000667.1:g.125912850T=	GRCh37
NC_000005.8:g.125940749T=	NCBI36
NG_008600.2:g.23233A=
NG_008600.3:g.23233A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.571A= MANE Select	NP_001173.2:p.Ile191=
ENST00000409134.8:c.571A= MANE Select	ENSP00000387123.3:p.Ile191=
NM_001182.4:c.571A=	NP_001173.2:p.Ile191=
NM_001201377.1:c.487A=	NP_001188306.1:p.Ile163=
NM_001201377.2:c.487A=	NP_001188306.1:p.Ile163=
NM_001202404.1:c.652A=	NP_001189333.1:p.Ile218=
NM_001202404.2:c.571A=	NP_001189333.2:p.Ile191=
ENST00000409134.7:c.571A=	ENSP00000387123.3:p.Ile191=
ENST00000412186.2:c.447A=	ENSP00000414536.2:n.447A=
ENST00000413020.5:c.571A=	ENSP00000487936.1:p.Ile191=
ENST00000413020.6:c.571A=	ENSP00000487936.1:p.Ile191=
ENST00000433026.5:n.98A=
ENST00000447989.6:c.652A=	ENSP00000414132.2:p.Ile218=
ENST00000458249.5:c.731A=	ENSP00000403929.1:n.731A=
ENST00000458249.6:c.*480A=	ENSP00000403929.1:n.*480A=
ENST00000503281.5:c.160A=
ENST00000503281.6:c.160A=
ENST00000509270.2:c.505A=	ENSP00000449318.2:p.Ile169=
ENST00000509459.5:c.119A=
ENST00000509459.6:c.119A=
ENST00000510111.6:c.484A=	ENSP00000447388.1:p.Ile162=
ENST00000511266.5:n.402A=
ENST00000511266.6:n.1293A=
ENST00000553117.5:c.571A=	ENSP00000448593.1:p.Ile191=
ENST00000635851.1:c.569A=
ENST00000636062.1:n.466A=
ENST00000636225.1:c.*380A=	ENSP00000490797.1:n.*380A=
ENST00000636286.1:n.289A=
ENST00000636743.1:c.451A=	ENSP00000489725.1:p.Ile151=
ENST00000636808.1:c.*380A=	ENSP00000490833.1:n.*380A=
ENST00000636872.1:c.731A=	ENSP00000490919.1:n.731A=
ENST00000636879.1:c.616A=	ENSP00000490811.1:p.Ile206=
ENST00000636886.1:c.370A=	ENSP00000490371.1:p.Ile124=
ENST00000637206.1:c.571A=	ENSP00000489895.1:p.Ile191=
ENST00000637272.1:c.571A=	ENSP00000489686.1:p.Ile191=
ENST00000637292.1:c.224A=
ENST00000637782.1:c.571A=	ENSP00000490024.1:p.Ile191=
ENST00000637964.1:c.517A=	ENSP00000490291.1:p.Ile173=
ENST00000638008.1:c.*513A=	ENSP00000490400.1:n.*513A=
XM_011543417.1:c.166A=	XP_011541719.1:p.Ile56=
XM_011543417.2:c.166A=	XP_011541719.1:p.Ile56=