Canonical Allele Identifier: CA1580442884

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126550236T= , CM000667.2:g.126550236T=	GRCh38
NC_000005.9:g.125885928T= , CM000667.1:g.125885928T=	GRCh37
NC_000005.8:g.125913827T=	NCBI36
NG_008600.2:g.50155A=
NG_008600.3:g.50155A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1375A= MANE Select	ENSP00000387123.3:p.Ile459=
ENST00000458249.6:c.*1284A=	ENSP00000403929.1:n.*1284A=
ENST00000497231.7:n.1802A=
ENST00000635851.1:c.1373A=
ENST00000636062.1:n.1270A=
ENST00000636225.1:c.*1319A=	ENSP00000490797.1:n.*1319A=
ENST00000636286.1:n.1093A=
ENST00000636482.1:n.862A=
ENST00000636743.1:c.1255A=	ENSP00000489725.1:p.Ile419=
ENST00000636808.1:c.*1184A=	ENSP00000490833.1:n.*1184A=
ENST00000636872.1:c.1535A=	ENSP00000490919.1:n.1535A=
ENST00000636879.1:c.1420A=	ENSP00000490811.1:p.Ile474=
ENST00000636886.1:c.1174A=	ENSP00000490371.1:p.Ile392=
ENST00000637206.1:c.1195A=	ENSP00000489895.1:p.Ile399=
ENST00000637272.1:c.1366A=	ENSP00000489686.1:p.Ile456=
ENST00000637292.1:c.831A=
ENST00000637782.1:c.1375A=	ENSP00000490024.1:p.Ile459=
ENST00000638008.1:c.*1219A=	ENSP00000490400.1:n.*1219A=
ENST00000638010.1:n.1321A=
ENST00000409134.7:c.1375A=	ENSP00000387123.3:p.Ile459=
ENST00000447989.6:c.1264A=	ENSP00000414132.2:p.Ile422=
ENST00000476328.1:n.140A=
ENST00000497231.6:n.1585A=
ENST00000553117.5:c.1183A=	ENSP00000448593.1:p.Ile395=
NM_001182.4:c.1375A=	NP_001173.2:p.Ile459=
NM_001201377.1:c.1291A=	NP_001188306.1:p.Ile431=
NM_001202404.1:c.1264A=	NP_001189333.1:p.Ile422=
XM_011543417.1:c.970A=	XP_011541719.1:p.Ile324=
XM_011543417.2:c.970A=	XP_011541719.1:p.Ile324=
NM_001182.5:c.1375A= MANE Select	NP_001173.2:p.Ile459=
NM_001201377.2:c.1291A=	NP_001188306.1:p.Ile431=
NM_001202404.2:c.1183A=	NP_001189333.2:p.Ile395=