Canonical Allele Identifier: CA360731793

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126582901T>C , CM000667.2:g.126582901T>C	GRCh38
NC_000005.9:g.125918593T>C , CM000667.1:g.125918593T>C	GRCh37
NC_000005.8:g.125946492T>C	NCBI36
NG_008600.2:g.17490A>G
NG_008600.3:g.17490A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.467A>G MANE Select	NP_001173.2:p.Tyr156Cys
ENST00000409134.8:c.467A>G MANE Select	ENSP00000387123.3:p.Tyr156Cys
NM_001182.4:c.467A>G	NP_001173.2:p.Tyr156Cys
NM_001201377.1:c.383A>G	NP_001188306.1:p.Tyr128Cys
NM_001201377.2:c.383A>G	NP_001188306.1:p.Tyr128Cys
NM_001202404.1:c.548A>G	NP_001189333.1:p.Tyr183Cys
NM_001202404.2:c.467A>G	NP_001189333.2:p.Tyr156Cys
ENST00000409134.7:c.467A>G	ENSP00000387123.3:p.Tyr156Cys
ENST00000412186.2:c.393+1031A>G	ENSP00000414536.2:n.393+1031A>G
ENST00000413020.5:c.467A>G	ENSP00000487936.1:p.Tyr156Cys
ENST00000413020.6:c.467A>G	ENSP00000487936.1:p.Tyr156Cys
ENST00000447989.6:c.548A>G	ENSP00000414132.2:p.Tyr183Cys
ENST00000458249.5:c.627A>G	ENSP00000403929.1:n.627A>G
ENST00000458249.6:c.*376A>G	ENSP00000403929.1:n.*376A>G
ENST00000503281.5:c.107-5690A>G
ENST00000503281.6:c.107-5690A>G
ENST00000509270.1:c.347A>G	ENSP00000449318.1:p.Tyr116Cys
ENST00000509270.2:c.401A>G	ENSP00000449318.2:p.Tyr134Cys
ENST00000509459.5:c.66-5690A>G
ENST00000509459.6:c.66-5690A>G
ENST00000510111.6:c.380A>G	ENSP00000447388.1:p.Tyr127Cys
ENST00000511266.5:n.348+1031A>G
ENST00000511266.6:n.1189A>G
ENST00000553117.5:c.467A>G	ENSP00000448593.1:p.Tyr156Cys
ENST00000635851.1:c.465A>G
ENST00000636062.1:n.362A>G
ENST00000636190.1:n.346A>G
ENST00000636225.1:c.*276A>G	ENSP00000490797.1:n.*276A>G
ENST00000636286.1:n.185A>G
ENST00000636743.1:c.347A>G	ENSP00000489725.1:p.Tyr116Cys
ENST00000636808.1:c.*276A>G	ENSP00000490833.1:n.*276A>G
ENST00000636872.1:c.627A>G	ENSP00000490919.1:n.627A>G
ENST00000636879.1:c.467A>G	ENSP00000490811.1:p.Tyr156Cys
ENST00000636886.1:c.266A>G	ENSP00000490371.1:p.Tyr89Cys
ENST00000637070.1:n.81A>G
ENST00000637206.1:c.467A>G	ENSP00000489895.1:p.Tyr156Cys
ENST00000637272.1:c.467A>G	ENSP00000489686.1:p.Tyr156Cys
ENST00000637292.1:c.120A>G
ENST00000637782.1:c.467A>G	ENSP00000490024.1:p.Tyr156Cys
ENST00000637964.1:c.413A>G	ENSP00000490291.1:p.Tyr138Cys
ENST00000638008.1:c.*409A>G	ENSP00000490400.1:n.*409A>G
XM_011543417.1:c.62A>G	XP_011541719.1:p.Tyr21Cys
XM_011543417.2:c.62A>G	XP_011541719.1:p.Tyr21Cys