Canonical Allele Identifier: CA360723268

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552103G>A , CM000667.2:g.126552103G>A	GRCh38
NC_000005.9:g.125887795G>A , CM000667.1:g.125887795G>A	GRCh37
NC_000005.8:g.125915694G>A	NCBI36
NG_008600.2:g.48288C>T
NG_008600.3:g.48288C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1235C>T MANE Select	NP_001173.2:p.Thr412Ile
ENST00000409134.8:c.1235C>T MANE Select	ENSP00000387123.3:p.Thr412Ile
NM_001182.4:c.1235C>T	NP_001173.2:p.Thr412Ile
NM_001201377.1:c.1151C>T	NP_001188306.1:p.Thr384Ile
NM_001201377.2:c.1151C>T	NP_001188306.1:p.Thr384Ile
NM_001202404.1:c.1124C>T	NP_001189333.1:p.Thr375Ile
NM_001202404.2:c.1043C>T	NP_001189333.2:p.Thr348Ile
ENST00000409134.7:c.1235C>T	ENSP00000387123.3:p.Thr412Ile
ENST00000447989.6:c.1124C>T	ENSP00000414132.2:p.Thr375Ile
ENST00000458249.6:c.*1144C>T	ENSP00000403929.1:n.*1144C>T
ENST00000497231.6:n.1445C>T
ENST00000497231.7:n.1662C>T
ENST00000503281.5:c.824C>T
ENST00000503281.6:c.824C>T
ENST00000553117.5:c.1043C>T	ENSP00000448593.1:p.Thr348Ile
ENST00000635851.1:c.1233C>T
ENST00000636062.1:n.1130C>T
ENST00000636225.1:c.*1179C>T	ENSP00000490797.1:n.*1179C>T
ENST00000636286.1:n.953C>T
ENST00000636482.1:n.722C>T
ENST00000636743.1:c.1115C>T	ENSP00000489725.1:p.Thr372Ile
ENST00000636808.1:c.*1044C>T	ENSP00000490833.1:n.*1044C>T
ENST00000636872.1:c.1395C>T	ENSP00000490919.1:n.1395C>T
ENST00000636879.1:c.1280C>T	ENSP00000490811.1:p.Thr427Ile
ENST00000636886.1:c.1034C>T	ENSP00000490371.1:p.Thr345Ile
ENST00000637206.1:c.1055C>T	ENSP00000489895.1:p.Thr352Ile
ENST00000637272.1:c.1226C>T	ENSP00000489686.1:p.Thr409Ile
ENST00000637292.1:c.774-1810C>T
ENST00000637782.1:c.1235C>T	ENSP00000490024.1:p.Thr412Ile
ENST00000638008.1:c.*1079C>T	ENSP00000490400.1:n.*1079C>T
ENST00000638010.1:n.1181C>T
XM_011543417.1:c.830C>T	XP_011541719.1:p.Thr277Ile
XM_011543417.2:c.830C>T	XP_011541719.1:p.Thr277Ile