Canonical Allele Identifier: CA1580455176

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577122A= , CM000667.2:g.126577122A=	GRCh38
NC_000005.9:g.125912814A= , CM000667.1:g.125912814A=	GRCh37
NC_000005.8:g.125940713A=	NCBI36
NG_008600.2:g.23269T=
NG_008600.3:g.23269T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.607T= MANE Select	NP_001173.2:p.Trp203=
ENST00000409134.8:c.607T= MANE Select	ENSP00000387123.3:p.Trp203=
NM_001182.4:c.607T=	NP_001173.2:p.Trp203=
NM_001201377.1:c.523T=	NP_001188306.1:p.Trp175=
NM_001201377.2:c.523T=	NP_001188306.1:p.Trp175=
NM_001202404.1:c.688T=	NP_001189333.1:p.Trp230=
NM_001202404.2:c.607T=	NP_001189333.2:p.Trp203=
ENST00000409134.7:c.607T=	ENSP00000387123.3:p.Trp203=
ENST00000412186.2:c.483T=	ENSP00000414536.2:n.483T=
ENST00000413020.5:c.607T=	ENSP00000487936.1:p.Trp203=
ENST00000413020.6:c.607T=	ENSP00000487936.1:p.Trp203=
ENST00000433026.5:n.134T=
ENST00000447989.6:c.688T=	ENSP00000414132.2:p.Trp230=
ENST00000458249.5:c.767T=	ENSP00000403929.1:n.767T=
ENST00000458249.6:c.*516T=	ENSP00000403929.1:n.*516T=
ENST00000503281.5:c.196T=
ENST00000503281.6:c.196T=
ENST00000509270.2:c.541T=	ENSP00000449318.2:p.Trp181=
ENST00000509459.5:c.155T=
ENST00000509459.6:c.155T=
ENST00000510111.6:c.520T=	ENSP00000447388.1:p.Trp174=
ENST00000511266.5:n.438T=
ENST00000511266.6:n.1329T=
ENST00000553117.5:c.607T=	ENSP00000448593.1:p.Trp203=
ENST00000635851.1:c.605T=
ENST00000636062.1:n.502T=
ENST00000636225.1:c.*416T=	ENSP00000490797.1:n.*416T=
ENST00000636286.1:n.325T=
ENST00000636743.1:c.487T=	ENSP00000489725.1:p.Trp163=
ENST00000636808.1:c.*416T=	ENSP00000490833.1:n.*416T=
ENST00000636872.1:c.767T=	ENSP00000490919.1:n.767T=
ENST00000636879.1:c.652T=	ENSP00000490811.1:p.Trp218=
ENST00000636886.1:c.406T=	ENSP00000490371.1:p.Trp136=
ENST00000637206.1:c.607T=	ENSP00000489895.1:p.Trp203=
ENST00000637272.1:c.607T=	ENSP00000489686.1:p.Trp203=
ENST00000637292.1:c.260T=
ENST00000637782.1:c.607T=	ENSP00000490024.1:p.Trp203=
ENST00000637964.1:c.553T=	ENSP00000490291.1:p.Trp185=
ENST00000638008.1:c.*549T=	ENSP00000490400.1:n.*549T=
XM_011543417.1:c.202T=	XP_011541719.1:p.Trp68=
XM_011543417.2:c.202T=	XP_011541719.1:p.Trp68=