Canonical Allele Identifier: CA3389432

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126550206G>A , CM000667.2:g.126550206G>A	GRCh38
NC_000005.9:g.125885898G>A , CM000667.1:g.125885898G>A	GRCh37
NC_000005.8:g.125913797G>A	NCBI36
NG_008600.2:g.50185C>T
NG_008600.3:g.50185C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1405C>T MANE Select	NP_001173.2:p.Arg469Cys
ENST00000409134.8:c.1405C>T MANE Select	ENSP00000387123.3:p.Arg469Cys
NM_001182.4:c.1405C>T	NP_001173.2:p.Arg469Cys
NM_001201377.1:c.1321C>T	NP_001188306.1:p.Arg441Cys
NM_001201377.2:c.1321C>T	NP_001188306.1:p.Arg441Cys
NM_001202404.1:c.1294C>T	NP_001189333.1:p.Arg432Cys
NM_001202404.2:c.1213C>T	NP_001189333.2:p.Arg405Cys
ENST00000409134.7:c.1405C>T	ENSP00000387123.3:p.Arg469Cys
ENST00000447989.6:c.1294C>T	ENSP00000414132.2:p.Arg432Cys
ENST00000458249.6:c.*1314C>T	ENSP00000403929.1:n.*1314C>T
ENST00000476328.1:n.170C>T
ENST00000497231.6:n.1615C>T
ENST00000497231.7:n.1832C>T
ENST00000553117.5:c.1213C>T	ENSP00000448593.1:p.Arg405Cys
ENST00000635851.1:c.1403C>T
ENST00000636062.1:n.1300C>T
ENST00000636225.1:c.*1349C>T	ENSP00000490797.1:n.*1349C>T
ENST00000636286.1:n.1123C>T
ENST00000636482.1:n.892C>T
ENST00000636743.1:c.1285C>T	ENSP00000489725.1:p.Arg429Cys
ENST00000636808.1:c.*1214C>T	ENSP00000490833.1:n.*1214C>T
ENST00000636872.1:c.1565C>T	ENSP00000490919.1:n.1565C>T
ENST00000636879.1:c.1450C>T	ENSP00000490811.1:p.Arg484Cys
ENST00000636886.1:c.1204C>T	ENSP00000490371.1:p.Arg402Cys
ENST00000637206.1:c.1225C>T	ENSP00000489895.1:p.Arg409Cys
ENST00000637272.1:c.1396C>T	ENSP00000489686.1:p.Arg466Cys
ENST00000637292.1:c.861C>T
ENST00000637782.1:c.1405C>T	ENSP00000490024.1:p.Arg469Cys
ENST00000638008.1:c.*1249C>T	ENSP00000490400.1:n.*1249C>T
ENST00000638010.1:n.1351C>T
XM_011543417.1:c.1000C>T	XP_011541719.1:p.Arg334Cys
XM_011543417.2:c.1000C>T	XP_011541719.1:p.Arg334Cys