Canonical Allele Identifier: CA1580440416

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545013G= , CM000667.2:g.126545013G=	GRCh38
NC_000005.9:g.125880705G= , CM000667.1:g.125880705G=	GRCh37
NC_000005.8:g.125908604G=	NCBI36
NG_008600.2:g.55378C=
NG_008600.3:g.55378C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1572C= MANE Select	ENSP00000387123.3:p.Ile524=
ENST00000458249.6:c.*1481C=	ENSP00000403929.1:n.*1481C=
ENST00000485852.7:n.319C=
ENST00000497231.7:n.1999C=
ENST00000635851.1:c.1563+1311C=
ENST00000636286.1:n.1337C=
ENST00000636482.1:n.1106C=
ENST00000636743.1:c.1452C=	ENSP00000489725.1:p.Ile484=
ENST00000636808.1:c.*1381C=	ENSP00000490833.1:n.*1381C=
ENST00000636872.1:c.1732C=	ENSP00000490919.1:n.1732C=
ENST00000636879.1:c.1617C=	ENSP00000490811.1:p.Ile539=
ENST00000636886.1:c.1371C=	ENSP00000490371.1:p.Ile457=
ENST00000637206.1:c.1392C=	ENSP00000489895.1:p.Ile464=
ENST00000637272.1:c.1563C=	ENSP00000489686.1:p.Ile521=
ENST00000637292.1:c.1028C=
ENST00000637782.1:c.1565+1311C=	ENSP00000490024.1:n.1565+1311C=
ENST00000638008.1:c.*1416C=	ENSP00000490400.1:n.*1416C=
ENST00000638010.1:n.1518C=
ENST00000409134.7:c.1572C=	ENSP00000387123.3:p.Ile524=
ENST00000447989.6:c.1461C=	ENSP00000414132.2:p.Ile487=
ENST00000485852.6:n.319C=
ENST00000497231.6:n.1782C=
ENST00000553117.5:c.1380C=	ENSP00000448593.1:p.Ile460=
NM_001182.4:c.1572C=	NP_001173.2:p.Ile524=
NM_001201377.1:c.1488C=	NP_001188306.1:p.Ile496=
NM_001202404.1:c.1461C=	NP_001189333.1:p.Ile487=
XM_011543417.1:c.1167C=	XP_011541719.1:p.Ile389=
XM_011543417.2:c.1167C=	XP_011541719.1:p.Ile389=
NM_001182.5:c.1572C= MANE Select	NP_001173.2:p.Ile524=
NM_001201377.2:c.1488C=	NP_001188306.1:p.Ile496=
NM_001202404.2:c.1380C=	NP_001189333.2:p.Ile460=