Canonical Allele Identifier: CA360730363

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126575423G>C , CM000667.2:g.126575423G>C	GRCh38
NC_000005.9:g.125911115G>C , CM000667.1:g.125911115G>C	GRCh37
NC_000005.8:g.125939014G>C	NCBI36
NG_008600.2:g.24968C>G
NG_008600.3:g.24968C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.692C>G MANE Select	NP_001173.2:p.Thr231Arg
ENST00000409134.8:c.692C>G MANE Select	ENSP00000387123.3:p.Thr231Arg
NM_001182.4:c.692C>G	NP_001173.2:p.Thr231Arg
NM_001201377.1:c.608C>G	NP_001188306.1:p.Thr203Arg
NM_001201377.2:c.608C>G	NP_001188306.1:p.Thr203Arg
NM_001202404.1:c.773C>G	NP_001189333.1:p.Thr258Arg
NM_001202404.2:c.692C>G	NP_001189333.2:p.Thr231Arg
ENST00000409134.7:c.692C>G	ENSP00000387123.3:p.Thr231Arg
ENST00000413020.5:c.692C>G	ENSP00000487936.1:p.Thr231Arg
ENST00000413020.6:c.692C>G	ENSP00000487936.1:p.Thr231Arg
ENST00000433026.5:n.219C>G
ENST00000447989.6:c.773C>G	ENSP00000414132.2:p.Thr258Arg
ENST00000458249.5:c.852C>G	ENSP00000403929.1:n.852C>G
ENST00000458249.6:c.*601C>G	ENSP00000403929.1:n.*601C>G
ENST00000503281.5:c.281C>G
ENST00000503281.6:c.281C>G
ENST00000509459.5:c.240C>G
ENST00000509459.6:c.240C>G
ENST00000510111.6:c.605C>G	ENSP00000447388.1:p.Thr202Arg
ENST00000511266.6:n.1414C>G
ENST00000553117.5:c.692C>G	ENSP00000448593.1:p.Thr231Arg
ENST00000635851.1:c.690C>G
ENST00000636062.1:n.587C>G
ENST00000636225.1:c.*501C>G	ENSP00000490797.1:n.*501C>G
ENST00000636286.1:n.410C>G
ENST00000636743.1:c.572C>G	ENSP00000489725.1:p.Thr191Arg
ENST00000636808.1:c.*501C>G	ENSP00000490833.1:n.*501C>G
ENST00000636872.1:c.852C>G	ENSP00000490919.1:n.852C>G
ENST00000636879.1:c.737C>G	ENSP00000490811.1:p.Thr246Arg
ENST00000636886.1:c.491C>G	ENSP00000490371.1:p.Thr164Arg
ENST00000637206.1:c.692C>G	ENSP00000489895.1:p.Thr231Arg
ENST00000637272.1:c.692C>G	ENSP00000489686.1:p.Thr231Arg
ENST00000637292.1:c.345C>G
ENST00000637782.1:c.692C>G	ENSP00000490024.1:p.Thr231Arg
ENST00000637964.1:c.638C>G	ENSP00000490291.1:p.Thr213Arg
ENST00000638008.1:c.*634C>G	ENSP00000490400.1:n.*634C>G
XM_011543417.1:c.287C>G	XP_011541719.1:p.Thr96Arg
XM_011543417.2:c.287C>G	XP_011541719.1:p.Thr96Arg