Canonical Allele Identifier: CA360723792

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126554316C>A , CM000667.2:g.126554316C>A	GRCh38
NC_000005.9:g.125890008C>A , CM000667.1:g.125890008C>A	GRCh37
NC_000005.8:g.125917907C>A	NCBI36
NG_008600.2:g.46075G>T
NG_008600.3:g.46075G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1171G>T MANE Select	NP_001173.2:p.Glu391Ter
ENST00000409134.8:c.1171G>T MANE Select	ENSP00000387123.3:p.Glu391Ter
NM_001182.4:c.1171G>T	NP_001173.2:p.Glu391Ter
NM_001201377.1:c.1087G>T	NP_001188306.1:p.Glu363Ter
NM_001201377.2:c.1087G>T	NP_001188306.1:p.Glu363Ter
NM_001202404.1:c.1090-2179G>T	NP_001189333.1:n.1090-2179G>T
NM_001202404.2:c.1009-2179G>T	NP_001189333.2:n.1009-2179G>T
ENST00000409134.7:c.1171G>T	ENSP00000387123.3:p.Glu391Ter
ENST00000447989.6:c.1090-2179G>T	ENSP00000414132.2:n.1090-2179G>T
ENST00000458249.6:c.*1080G>T	ENSP00000403929.1:n.*1080G>T
ENST00000497231.6:n.1381G>T
ENST00000497231.7:n.1598G>T
ENST00000503281.5:c.760G>T
ENST00000503281.6:c.760G>T
ENST00000553117.5:c.1009-2179G>T	ENSP00000448593.1:n.1009-2179G>T
ENST00000635851.1:c.1169G>T
ENST00000636062.1:n.1066G>T
ENST00000636225.1:c.*1115G>T	ENSP00000490797.1:n.*1115G>T
ENST00000636286.1:n.889G>T
ENST00000636482.1:n.658G>T
ENST00000636743.1:c.1051G>T	ENSP00000489725.1:p.Glu351Ter
ENST00000636808.1:c.*980G>T	ENSP00000490833.1:n.*980G>T
ENST00000636872.1:c.1331G>T	ENSP00000490919.1:n.1331G>T
ENST00000636879.1:c.1216G>T	ENSP00000490811.1:p.Glu406Ter
ENST00000636886.1:c.970G>T	ENSP00000490371.1:p.Glu324Ter
ENST00000637206.1:c.991G>T	ENSP00000489895.1:p.Glu331Ter
ENST00000637272.1:c.1162G>T	ENSP00000489686.1:p.Glu388Ter
ENST00000637292.1:c.744G>T
ENST00000637782.1:c.1171G>T	ENSP00000490024.1:p.Glu391Ter
ENST00000638008.1:c.*1015G>T	ENSP00000490400.1:n.*1015G>T
ENST00000638010.1:n.1117G>T
XM_011543417.1:c.766G>T	XP_011541719.1:p.Glu256Ter
XM_011543417.2:c.766G>T	XP_011541719.1:p.Glu256Ter