Canonical Allele Identifier: CA1580440417

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545015T= , CM000667.2:g.126545015T=	GRCh38
NC_000005.9:g.125880707T= , CM000667.1:g.125880707T=	GRCh37
NC_000005.8:g.125908606T=	NCBI36
NG_008600.2:g.55376A=
NG_008600.3:g.55376A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1570A= MANE Select	ENSP00000387123.3:p.Ile524=
ENST00000458249.6:c.*1479A=	ENSP00000403929.1:n.*1479A=
ENST00000485852.7:n.317A=
ENST00000497231.7:n.1997A=
ENST00000635851.1:c.1563+1309A=
ENST00000636286.1:n.1335A=
ENST00000636482.1:n.1104A=
ENST00000636743.1:c.1450A=	ENSP00000489725.1:p.Ile484=
ENST00000636808.1:c.*1379A=	ENSP00000490833.1:n.*1379A=
ENST00000636872.1:c.1730A=	ENSP00000490919.1:n.1730A=
ENST00000636879.1:c.1615A=	ENSP00000490811.1:p.Ile539=
ENST00000636886.1:c.1369A=	ENSP00000490371.1:p.Ile457=
ENST00000637206.1:c.1390A=	ENSP00000489895.1:p.Ile464=
ENST00000637272.1:c.1561A=	ENSP00000489686.1:p.Ile521=
ENST00000637292.1:c.1026A=
ENST00000637782.1:c.1565+1309A=	ENSP00000490024.1:n.1565+1309A=
ENST00000638008.1:c.*1414A=	ENSP00000490400.1:n.*1414A=
ENST00000638010.1:n.1516A=
ENST00000409134.7:c.1570A=	ENSP00000387123.3:p.Ile524=
ENST00000447989.6:c.1459A=	ENSP00000414132.2:p.Ile487=
ENST00000485852.6:n.317A=
ENST00000497231.6:n.1780A=
ENST00000553117.5:c.1378A=	ENSP00000448593.1:p.Ile460=
NM_001182.4:c.1570A=	NP_001173.2:p.Ile524=
NM_001201377.1:c.1486A=	NP_001188306.1:p.Ile496=
NM_001202404.1:c.1459A=	NP_001189333.1:p.Ile487=
XM_011543417.1:c.1165A=	XP_011541719.1:p.Ile389=
XM_011543417.2:c.1165A=	XP_011541719.1:p.Ile389=
NM_001182.5:c.1570A= MANE Select	NP_001173.2:p.Ile524=
NM_001201377.2:c.1486A=	NP_001188306.1:p.Ile496=
NM_001202404.2:c.1378A=	NP_001189333.2:p.Ile460=