Canonical Allele Identifier: CA1580440984

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546352A= , CM000667.2:g.126546352A=	GRCh38
NC_000005.9:g.125882044A= , CM000667.1:g.125882044A=	GRCh37
NC_000005.8:g.125909943A=	NCBI36
NG_008600.2:g.54039T=
NG_008600.3:g.54039T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1537T= MANE Select	ENSP00000387123.3:p.Trp513=
ENST00000458249.6:c.*1446T=	ENSP00000403929.1:n.*1446T=
ENST00000485852.7:n.284T=
ENST00000497231.7:n.1964T=
ENST00000635851.1:c.1535T=
ENST00000636225.1:c.*1481T=	ENSP00000490797.1:n.*1481T=
ENST00000636286.1:n.1302T=
ENST00000636482.1:n.1071T=
ENST00000636743.1:c.1417T=	ENSP00000489725.1:p.Trp473=
ENST00000636808.1:c.*1346T=	ENSP00000490833.1:n.*1346T=
ENST00000636872.1:c.1697T=	ENSP00000490919.1:n.1697T=
ENST00000636879.1:c.1582T=	ENSP00000490811.1:p.Trp528=
ENST00000636886.1:c.1336T=	ENSP00000490371.1:p.Trp446=
ENST00000637206.1:c.1357T=	ENSP00000489895.1:p.Trp453=
ENST00000637272.1:c.1528T=	ENSP00000489686.1:p.Trp510=
ENST00000637292.1:c.993T=
ENST00000637782.1:c.1537T=	ENSP00000490024.1:p.Trp513=
ENST00000638008.1:c.*1381T=	ENSP00000490400.1:n.*1381T=
ENST00000638010.1:n.1483T=
ENST00000409134.7:c.1537T=	ENSP00000387123.3:p.Trp513=
ENST00000447989.6:c.1426T=	ENSP00000414132.2:p.Trp476=
ENST00000485852.6:n.284T=
ENST00000497231.6:n.1747T=
ENST00000553117.5:c.1345T=	ENSP00000448593.1:p.Trp449=
NM_001182.4:c.1537T=	NP_001173.2:p.Trp513=
NM_001201377.1:c.1453T=	NP_001188306.1:p.Trp485=
NM_001202404.1:c.1426T=	NP_001189333.1:p.Trp476=
XM_011543417.1:c.1132T=	XP_011541719.1:p.Trp378=
XM_011543417.2:c.1132T=	XP_011541719.1:p.Trp378=
NM_001182.5:c.1537T= MANE Select	NP_001173.2:p.Trp513=
NM_001201377.2:c.1453T=	NP_001188306.1:p.Trp485=
NM_001202404.2:c.1345T=	NP_001189333.2:p.Trp449=