Canonical Allele Identifier: CA1580440998

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546383A= , CM000667.2:g.126546383A=	GRCh38
NC_000005.9:g.125882075A= , CM000667.1:g.125882075A=	GRCh37
NC_000005.8:g.125909974A=	NCBI36
NG_008600.2:g.54008T=
NG_008600.3:g.54008T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1506T= MANE Select	ENSP00000387123.3:p.Thr502=
ENST00000458249.6:c.*1415T=	ENSP00000403929.1:n.*1415T=
ENST00000485852.7:n.253T=
ENST00000497231.7:n.1933T=
ENST00000635851.1:c.1504T=
ENST00000636225.1:c.*1450T=	ENSP00000490797.1:n.*1450T=
ENST00000636286.1:n.1271T=
ENST00000636482.1:n.1040T=
ENST00000636743.1:c.1386T=	ENSP00000489725.1:p.Thr462=
ENST00000636808.1:c.*1315T=	ENSP00000490833.1:n.*1315T=
ENST00000636872.1:c.1666T=	ENSP00000490919.1:n.1666T=
ENST00000636879.1:c.1551T=	ENSP00000490811.1:p.Thr517=
ENST00000636886.1:c.1305T=	ENSP00000490371.1:p.Thr435=
ENST00000637206.1:c.1326T=	ENSP00000489895.1:p.Thr442=
ENST00000637272.1:c.1497T=	ENSP00000489686.1:p.Thr499=
ENST00000637292.1:c.962T=
ENST00000637782.1:c.1506T=	ENSP00000490024.1:p.Thr502=
ENST00000638008.1:c.*1350T=	ENSP00000490400.1:n.*1350T=
ENST00000638010.1:n.1452T=
ENST00000409134.7:c.1506T=	ENSP00000387123.3:p.Thr502=
ENST00000447989.6:c.1395T=	ENSP00000414132.2:p.Thr465=
ENST00000485852.6:n.253T=
ENST00000497231.6:n.1716T=
ENST00000553117.5:c.1314T=	ENSP00000448593.1:p.Thr438=
NM_001182.4:c.1506T=	NP_001173.2:p.Thr502=
NM_001201377.1:c.1422T=	NP_001188306.1:p.Thr474=
NM_001202404.1:c.1395T=	NP_001189333.1:p.Thr465=
XM_011543417.1:c.1101T=	XP_011541719.1:p.Thr367=
XM_011543417.2:c.1101T=	XP_011541719.1:p.Thr367=
NM_001182.5:c.1506T= MANE Select	NP_001173.2:p.Thr502=
NM_001201377.2:c.1422T=	NP_001188306.1:p.Thr474=
NM_001202404.2:c.1314T=	NP_001189333.2:p.Thr438=