Canonical Allele Identifier: CA360730446

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126575464C>T , CM000667.2:g.126575464C>T	GRCh38
NC_000005.9:g.125911156C>T , CM000667.1:g.125911156C>T	GRCh37
NC_000005.8:g.125939055C>T	NCBI36
NG_008600.2:g.24927G>A
NG_008600.3:g.24927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.651G>A MANE Select	ENSP00000387123.3:p.Trp217Ter
ENST00000412186.2:c.527G>A	ENSP00000414536.2:n.527G>A
ENST00000413020.6:c.651G>A	ENSP00000487936.1:p.Trp217Ter
ENST00000458249.6:c.*560G>A	ENSP00000403929.1:n.*560G>A
ENST00000503281.6:c.240G>A
ENST00000509459.6:c.199G>A
ENST00000511266.6:n.1373G>A
ENST00000635851.1:c.649G>A
ENST00000636062.1:n.546G>A
ENST00000636225.1:c.*460G>A	ENSP00000490797.1:n.*460G>A
ENST00000636286.1:n.369G>A
ENST00000636743.1:c.531G>A	ENSP00000489725.1:p.Trp177Ter
ENST00000636808.1:c.*460G>A	ENSP00000490833.1:n.*460G>A
ENST00000636872.1:c.811G>A	ENSP00000490919.1:n.811G>A
ENST00000636879.1:c.696G>A	ENSP00000490811.1:p.Trp232Ter
ENST00000636886.1:c.450G>A	ENSP00000490371.1:p.Trp150Ter
ENST00000637206.1:c.651G>A	ENSP00000489895.1:p.Trp217Ter
ENST00000637272.1:c.651G>A	ENSP00000489686.1:p.Trp217Ter
ENST00000637292.1:c.304G>A
ENST00000637782.1:c.651G>A	ENSP00000490024.1:p.Trp217Ter
ENST00000637964.1:c.597G>A	ENSP00000490291.1:p.Trp199Ter
ENST00000638008.1:c.*593G>A	ENSP00000490400.1:n.*593G>A
ENST00000409134.7:c.651G>A	ENSP00000387123.3:p.Trp217Ter
ENST00000413020.5:c.651G>A	ENSP00000487936.1:p.Trp217Ter
ENST00000433026.5:n.178G>A
ENST00000447989.6:c.732G>A	ENSP00000414132.2:p.Trp244Ter
ENST00000458249.5:c.811G>A	ENSP00000403929.1:n.811G>A
ENST00000503281.5:c.240G>A
ENST00000509459.5:c.199G>A
ENST00000510111.6:c.564G>A	ENSP00000447388.1:p.Trp188Ter
ENST00000511266.5:n.482G>A
ENST00000553117.5:c.651G>A	ENSP00000448593.1:p.Trp217Ter
NM_001182.4:c.651G>A	NP_001173.2:p.Trp217Ter
NM_001201377.1:c.567G>A	NP_001188306.1:p.Trp189Ter
NM_001202404.1:c.732G>A	NP_001189333.1:p.Trp244Ter
XM_011543417.1:c.246G>A	XP_011541719.1:p.Trp82Ter
XM_011543417.2:c.246G>A	XP_011541719.1:p.Trp82Ter
NM_001182.5:c.651G>A MANE Select	NP_001173.2:p.Trp217Ter
NM_001201377.2:c.567G>A	NP_001188306.1:p.Trp189Ter
NM_001202404.2:c.651G>A	NP_001189333.2:p.Trp217Ter