Canonical Allele Identifier: CA360730932

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577082A>C , CM000667.2:g.126577082A>C	GRCh38
NC_000005.9:g.125912774A>C , CM000667.1:g.125912774A>C	GRCh37
NC_000005.8:g.125940673A>C	NCBI36
NG_008600.2:g.23309T>G
NG_008600.3:g.23309T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.647T>G MANE Select	ENSP00000387123.3:p.Leu216Arg
ENST00000412186.2:c.523T>G	ENSP00000414536.2:n.523T>G
ENST00000413020.6:c.647T>G	ENSP00000487936.1:p.Leu216Arg
ENST00000458249.6:c.*556T>G	ENSP00000403929.1:n.*556T>G
ENST00000503281.6:c.236T>G
ENST00000509270.2:c.581T>G
ENST00000509459.6:c.195T>G
ENST00000511266.6:n.1369T>G
ENST00000635851.1:c.645T>G
ENST00000636062.1:n.542T>G
ENST00000636225.1:c.*456T>G	ENSP00000490797.1:n.*456T>G
ENST00000636286.1:n.365T>G
ENST00000636743.1:c.527T>G	ENSP00000489725.1:p.Leu176Arg
ENST00000636808.1:c.*456T>G	ENSP00000490833.1:n.*456T>G
ENST00000636872.1:c.807T>G	ENSP00000490919.1:n.807T>G
ENST00000636879.1:c.692T>G	ENSP00000490811.1:p.Leu231Arg
ENST00000636886.1:c.446T>G	ENSP00000490371.1:p.Leu149Arg
ENST00000637206.1:c.647T>G	ENSP00000489895.1:p.Leu216Arg
ENST00000637272.1:c.647T>G	ENSP00000489686.1:p.Leu216Arg
ENST00000637292.1:c.300T>G
ENST00000637782.1:c.647T>G	ENSP00000490024.1:p.Leu216Arg
ENST00000637964.1:c.593T>G	ENSP00000490291.1:p.Leu198Arg
ENST00000638008.1:c.*589T>G	ENSP00000490400.1:n.*589T>G
ENST00000409134.7:c.647T>G	ENSP00000387123.3:p.Leu216Arg
ENST00000413020.5:c.647T>G	ENSP00000487936.1:p.Leu216Arg
ENST00000433026.5:n.174T>G
ENST00000447989.6:c.728T>G	ENSP00000414132.2:p.Leu243Arg
ENST00000458249.5:c.807T>G	ENSP00000403929.1:n.807T>G
ENST00000503281.5:c.236T>G
ENST00000509459.5:c.195T>G
ENST00000510111.6:c.560T>G	ENSP00000447388.1:p.Leu187Arg
ENST00000511266.5:n.478T>G
ENST00000553117.5:c.647T>G	ENSP00000448593.1:p.Leu216Arg
NM_001182.4:c.647T>G	NP_001173.2:p.Leu216Arg
NM_001201377.1:c.563T>G	NP_001188306.1:p.Leu188Arg
NM_001202404.1:c.728T>G	NP_001189333.1:p.Leu243Arg
XM_011543417.1:c.242T>G	XP_011541719.1:p.Leu81Arg
XM_011543417.2:c.242T>G	XP_011541719.1:p.Leu81Arg
NM_001182.5:c.647T>G MANE Select	NP_001173.2:p.Leu216Arg
NM_001201377.2:c.563T>G	NP_001188306.1:p.Leu188Arg
NM_001202404.2:c.647T>G	NP_001189333.2:p.Leu216Arg