Canonical Allele Identifier: CA1580440410

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544994G= , CM000667.2:g.126544994G=	GRCh38
NC_000005.9:g.125880686G= , CM000667.1:g.125880686G=	GRCh37
NC_000005.8:g.125908585G=	NCBI36
NG_008600.2:g.55397C=
NG_008600.3:g.55397C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1591C= MANE Select	ENSP00000387123.3:p.Pro531=
ENST00000458249.6:c.*1500C=	ENSP00000403929.1:n.*1500C=
ENST00000485852.7:n.338C=
ENST00000497231.7:n.2018C=
ENST00000635851.1:c.1563+1330C=
ENST00000636286.1:n.1356C=
ENST00000636482.1:n.1125C=
ENST00000636743.1:c.1471C=	ENSP00000489725.1:p.Pro491=
ENST00000636808.1:c.*1400C=	ENSP00000490833.1:n.*1400C=
ENST00000636872.1:c.1751C=	ENSP00000490919.1:n.1751C=
ENST00000636879.1:c.1636C=	ENSP00000490811.1:p.Pro546=
ENST00000636886.1:c.1390C=	ENSP00000490371.1:p.Pro464=
ENST00000637206.1:c.1411C=	ENSP00000489895.1:p.Pro471=
ENST00000637272.1:c.1582C=	ENSP00000489686.1:p.Pro528=
ENST00000637292.1:c.1047C=
ENST00000637782.1:c.1565+1330C=	ENSP00000490024.1:n.1565+1330C=
ENST00000638008.1:c.*1435C=	ENSP00000490400.1:n.*1435C=
ENST00000638010.1:n.1537C=
ENST00000409134.7:c.1591C=	ENSP00000387123.3:p.Pro531=
ENST00000447989.6:c.1480C=	ENSP00000414132.2:p.Pro494=
ENST00000485852.6:n.338C=
ENST00000497231.6:n.1801C=
ENST00000553117.5:c.1399C=	ENSP00000448593.1:p.Pro467=
NM_001182.4:c.1591C=	NP_001173.2:p.Pro531=
NM_001201377.1:c.1507C=	NP_001188306.1:p.Pro503=
NM_001202404.1:c.1480C=	NP_001189333.1:p.Pro494=
XM_011543417.1:c.1186C=	XP_011541719.1:p.Pro396=
XM_011543417.2:c.1186C=	XP_011541719.1:p.Pro396=
NM_001182.5:c.1591C= MANE Select	NP_001173.2:p.Pro531=
NM_001201377.2:c.1507C=	NP_001188306.1:p.Pro503=
NM_001202404.2:c.1399C=	NP_001189333.2:p.Pro467=