Canonical Allele Identifier: CA1580443704

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552057C= , CM000667.2:g.126552057C=	GRCh38
NC_000005.9:g.125887749C= , CM000667.1:g.125887749C=	GRCh37
NC_000005.8:g.125915648C=	NCBI36
NG_008600.2:g.48334G=
NG_008600.3:g.48334G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1281G= MANE Select	ENSP00000387123.3:p.Glu427=
ENST00000458249.6:c.*1190G=	ENSP00000403929.1:n.*1190G=
ENST00000497231.7:n.1708G=
ENST00000503281.6:c.870G=
ENST00000635851.1:c.1279G=
ENST00000636062.1:n.1176G=
ENST00000636225.1:c.*1225G=	ENSP00000490797.1:n.*1225G=
ENST00000636286.1:n.999G=
ENST00000636482.1:n.768G=
ENST00000636743.1:c.1161G=	ENSP00000489725.1:p.Glu387=
ENST00000636808.1:c.*1090G=	ENSP00000490833.1:n.*1090G=
ENST00000636872.1:c.1441G=	ENSP00000490919.1:n.1441G=
ENST00000636879.1:c.1326G=	ENSP00000490811.1:p.Glu442=
ENST00000636886.1:c.1080G=	ENSP00000490371.1:p.Glu360=
ENST00000637206.1:c.1101G=	ENSP00000489895.1:p.Glu367=
ENST00000637272.1:c.1272G=	ENSP00000489686.1:p.Glu424=
ENST00000637292.1:c.774-1764G=
ENST00000637782.1:c.1281G=	ENSP00000490024.1:p.Glu427=
ENST00000638008.1:c.*1125G=	ENSP00000490400.1:n.*1125G=
ENST00000638010.1:n.1227G=
ENST00000409134.7:c.1281G=	ENSP00000387123.3:p.Glu427=
ENST00000447989.6:c.1170G=	ENSP00000414132.2:p.Glu390=
ENST00000476328.1:n.46G=
ENST00000497231.6:n.1491G=
ENST00000503281.5:c.870G=
ENST00000553117.5:c.1089G=	ENSP00000448593.1:p.Glu363=
NM_001182.4:c.1281G=	NP_001173.2:p.Glu427=
NM_001201377.1:c.1197G=	NP_001188306.1:p.Glu399=
NM_001202404.1:c.1170G=	NP_001189333.1:p.Glu390=
XM_011543417.1:c.876G=	XP_011541719.1:p.Glu292=
XM_011543417.2:c.876G=	XP_011541719.1:p.Glu292=
NM_001182.5:c.1281G= MANE Select	NP_001173.2:p.Glu427=
NM_001201377.2:c.1197G=	NP_001188306.1:p.Glu399=
NM_001202404.2:c.1089G=	NP_001189333.2:p.Glu363=