Canonical Allele Identifier: CA288681

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126583952T>C , CM000667.2:g.126583952T>C	GRCh38
NC_000005.9:g.125919644T>C , CM000667.1:g.125919644T>C	GRCh37
NC_000005.8:g.125947543T>C	NCBI36
NG_008600.2:g.16439A>G
NG_008600.3:g.16439A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.373A>G MANE Select	NP_001173.2:p.Ile125Val
ENST00000409134.8:c.373A>G MANE Select	ENSP00000387123.3:p.Ile125Val
NM_001182.4:c.373A>G	NP_001173.2:p.Ile125Val
NM_001201377.1:c.289A>G	NP_001188306.1:p.Ile97Val
NM_001201377.2:c.289A>G	NP_001188306.1:p.Ile97Val
NM_001202404.1:c.454A>G	NP_001189333.1:p.Ile152Val
NM_001202404.2:c.373A>G	NP_001189333.2:p.Ile125Val
ENST00000409134.7:c.373A>G	ENSP00000387123.3:p.Ile125Val
ENST00000412186.1:c.*182A>G	ENSP00000414536.1:n.*182A>G
ENST00000412186.2:c.373A>G	ENSP00000414536.2:p.Ile125Val
ENST00000413020.5:c.373A>G	ENSP00000487936.1:p.Ile125Val
ENST00000413020.6:c.373A>G	ENSP00000487936.1:p.Ile125Val
ENST00000447989.6:c.454A>G	ENSP00000414132.2:p.Ile152Val
ENST00000458249.5:c.533A>G	ENSP00000403929.1:n.533A>G
ENST00000458249.6:c.*282A>G	ENSP00000403929.1:n.*282A>G
ENST00000479989.5:n.556A>G
ENST00000479989.6:n.556A>G
ENST00000503281.5:c.107-6741A>G
ENST00000503281.6:c.107-6741A>G
ENST00000509270.1:c.253A>G	ENSP00000449318.1:p.Ile85Val
ENST00000509270.2:c.307A>G	ENSP00000449318.2:p.Ile103Val
ENST00000509459.5:c.66-6741A>G
ENST00000509459.6:c.66-6741A>G
ENST00000510111.6:c.307-978A>G	ENSP00000447388.1:n.307-978A>G
ENST00000511266.5:n.328A>G
ENST00000511266.6:n.1095A>G
ENST00000553117.5:c.373A>G	ENSP00000448593.1:p.Ile125Val
ENST00000635851.1:c.371A>G
ENST00000636062.1:n.268A>G
ENST00000636190.1:n.252A>G
ENST00000636225.1:c.*182A>G	ENSP00000490797.1:n.*182A>G
ENST00000636286.1:n.91A>G
ENST00000636743.1:c.253A>G	ENSP00000489725.1:p.Ile85Val
ENST00000636808.1:c.*182A>G	ENSP00000490833.1:n.*182A>G
ENST00000636872.1:c.533A>G	ENSP00000490919.1:n.533A>G
ENST00000636879.1:c.373A>G	ENSP00000490811.1:p.Ile125Val
ENST00000636886.1:c.193-978A>G	ENSP00000490371.1:n.193-978A>G
ENST00000637206.1:c.373A>G	ENSP00000489895.1:p.Ile125Val
ENST00000637272.1:c.373A>G	ENSP00000489686.1:p.Ile125Val
ENST00000637292.1:c.26A>G
ENST00000637782.1:c.373A>G	ENSP00000490024.1:p.Ile125Val
ENST00000637964.1:c.319A>G	ENSP00000490291.1:p.Ile107Val
ENST00000638008.1:c.*315A>G	ENSP00000490400.1:n.*315A>G
XM_011543417.1:c.-33A>G	XP_011541719.1:n.-33A>G
XM_011543417.2:c.-33A>G	XP_011541719.1:n.-33A>G