Canonical Allele Identifier: CA360731662

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126582859G>A , CM000667.2:g.126582859G>A	GRCh38
NC_000005.9:g.125918551G>A , CM000667.1:g.125918551G>A	GRCh37
NC_000005.8:g.125946450G>A	NCBI36
NG_008600.2:g.17532C>T
NG_008600.3:g.17532C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.509C>T MANE Select	NP_001173.2:p.Pro170Leu
ENST00000409134.8:c.509C>T MANE Select	ENSP00000387123.3:p.Pro170Leu
NM_001182.4:c.509C>T	NP_001173.2:p.Pro170Leu
NM_001201377.1:c.425C>T	NP_001188306.1:p.Pro142Leu
NM_001201377.2:c.425C>T	NP_001188306.1:p.Pro142Leu
NM_001202404.1:c.590C>T	NP_001189333.1:p.Pro197Leu
NM_001202404.2:c.509C>T	NP_001189333.2:p.Pro170Leu
ENST00000409134.7:c.509C>T	ENSP00000387123.3:p.Pro170Leu
ENST00000412186.2:c.393+1073C>T	ENSP00000414536.2:n.393+1073C>T
ENST00000413020.5:c.509C>T	ENSP00000487936.1:p.Pro170Leu
ENST00000413020.6:c.509C>T	ENSP00000487936.1:p.Pro170Leu
ENST00000447989.6:c.590C>T	ENSP00000414132.2:p.Pro197Leu
ENST00000458249.5:c.669C>T	ENSP00000403929.1:n.669C>T
ENST00000458249.6:c.*418C>T	ENSP00000403929.1:n.*418C>T
ENST00000503281.5:c.107-5648C>T
ENST00000503281.6:c.107-5648C>T
ENST00000509270.1:c.389C>T	ENSP00000449318.1:p.Pro130Leu
ENST00000509270.2:c.443C>T	ENSP00000449318.2:p.Pro148Leu
ENST00000509459.5:c.66-5648C>T
ENST00000509459.6:c.66-5648C>T
ENST00000510111.6:c.422C>T	ENSP00000447388.1:p.Pro141Leu
ENST00000511266.5:n.348+1073C>T
ENST00000511266.6:n.1231C>T
ENST00000553117.5:c.509C>T	ENSP00000448593.1:p.Pro170Leu
ENST00000635851.1:c.507C>T
ENST00000636062.1:n.404C>T
ENST00000636190.1:n.388C>T
ENST00000636225.1:c.*318C>T	ENSP00000490797.1:n.*318C>T
ENST00000636286.1:n.227C>T
ENST00000636743.1:c.389C>T	ENSP00000489725.1:p.Pro130Leu
ENST00000636808.1:c.*318C>T	ENSP00000490833.1:n.*318C>T
ENST00000636872.1:c.669C>T	ENSP00000490919.1:n.669C>T
ENST00000636879.1:c.509C>T	ENSP00000490811.1:p.Pro170Leu
ENST00000636886.1:c.308C>T	ENSP00000490371.1:p.Pro103Leu
ENST00000637070.1:n.123C>T
ENST00000637206.1:c.509C>T	ENSP00000489895.1:p.Pro170Leu
ENST00000637272.1:c.509C>T	ENSP00000489686.1:p.Pro170Leu
ENST00000637292.1:c.162C>T
ENST00000637782.1:c.509C>T	ENSP00000490024.1:p.Pro170Leu
ENST00000637964.1:c.455C>T	ENSP00000490291.1:p.Pro152Leu
ENST00000638008.1:c.*451C>T	ENSP00000490400.1:n.*451C>T
XM_011543417.1:c.104C>T	XP_011541719.1:p.Pro35Leu
XM_011543417.2:c.104C>T	XP_011541719.1:p.Pro35Leu