Canonical Allele Identifier: CA3389670
Community Standard Title: NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=)
Gene: ALDH7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126570835G>A , CM000667.2:g.126570835G>A GRCh38
NC_000005.9:g.125906527G>A , CM000667.1:g.125906527G>A GRCh37
NC_000005.8:g.125934426G>A NCBI36
NG_008600.2:g.29556C>T
NG_008600.3:g.29556C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001182.5:c.720C>T MANE Select NP_001173.2:p.Asp240=
ENST00000409134.8:c.720C>T MANE Select ENSP00000387123.3:p.Asp240=
NM_001182.4:c.720C>T NP_001173.2:p.Asp240=
NM_001201377.1:c.636C>T NP_001188306.1:p.Asp212=
NM_001201377.2:c.636C>T NP_001188306.1:p.Asp212=
NM_001202404.1:c.801C>T NP_001189333.1:p.Asp267=
NM_001202404.2:c.720C>T NP_001189333.2:p.Asp240=
ENST00000409134.7:c.720C>T ENSP00000387123.3:p.Asp240=
ENST00000413020.5:c.720C>T ENSP00000487936.1:p.Asp240=
ENST00000413020.6:c.720C>T ENSP00000487936.1:p.Asp240=
ENST00000433026.5:n.247C>T
ENST00000447989.6:c.801C>T ENSP00000414132.2:p.Asp267=
ENST00000458249.5:c.880C>T ENSP00000403929.1:n.880C>T
ENST00000458249.6:c.*629C>T ENSP00000403929.1:n.*629C>T
ENST00000503281.5:c.309C>T
ENST00000503281.6:c.309C>T
ENST00000509459.5:c.268C>T
ENST00000509459.6:c.268C>T
ENST00000510111.6:c.633C>T ENSP00000447388.1:p.Asp211=
ENST00000511266.6:n.1442C>T
ENST00000553117.5:c.720C>T ENSP00000448593.1:p.Asp240=
ENST00000635851.1:c.718C>T
ENST00000636062.1:n.615C>T
ENST00000636225.1:c.*529C>T ENSP00000490797.1:n.*529C>T
ENST00000636286.1:n.438C>T
ENST00000636743.1:c.600C>T ENSP00000489725.1:p.Asp200=
ENST00000636808.1:c.*529C>T ENSP00000490833.1:n.*529C>T
ENST00000636872.1:c.880C>T ENSP00000490919.1:n.880C>T
ENST00000636879.1:c.765C>T ENSP00000490811.1:p.Asp255=
ENST00000636886.1:c.519C>T ENSP00000490371.1:p.Asp173=
ENST00000636892.1:n.303C>T
ENST00000637206.1:c.720C>T ENSP00000489895.1:p.Asp240=
ENST00000637272.1:c.720C>T ENSP00000489686.1:p.Asp240=
ENST00000637292.1:c.373C>T
ENST00000637782.1:c.720C>T ENSP00000490024.1:p.Asp240=
ENST00000637964.1:c.666C>T ENSP00000490291.1:p.Asp222=
ENST00000638008.1:c.*662C>T ENSP00000490400.1:n.*662C>T
XM_011543417.1:c.315C>T XP_011541719.1:p.Asp105=
XM_011543417.2:c.315C>T XP_011541719.1:p.Asp105=