Canonical Allele Identifier: CA1580455184

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577133G= , CM000667.2:g.126577133G=	GRCh38
NC_000005.9:g.125912825G= , CM000667.1:g.125912825G=	GRCh37
NC_000005.8:g.125940724G=	NCBI36
NG_008600.2:g.23258C=
NG_008600.3:g.23258C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.596C= MANE Select	NP_001173.2:p.Ala199=
ENST00000409134.8:c.596C= MANE Select	ENSP00000387123.3:p.Ala199=
NM_001182.4:c.596C=	NP_001173.2:p.Ala199=
NM_001201377.1:c.512C=	NP_001188306.1:p.Ala171=
NM_001201377.2:c.512C=	NP_001188306.1:p.Ala171=
NM_001202404.1:c.677C=	NP_001189333.1:p.Ala226=
NM_001202404.2:c.596C=	NP_001189333.2:p.Ala199=
ENST00000409134.7:c.596C=	ENSP00000387123.3:p.Ala199=
ENST00000412186.2:c.472C=	ENSP00000414536.2:n.472C=
ENST00000413020.5:c.596C=	ENSP00000487936.1:p.Ala199=
ENST00000413020.6:c.596C=	ENSP00000487936.1:p.Ala199=
ENST00000433026.5:n.123C=
ENST00000447989.6:c.677C=	ENSP00000414132.2:p.Ala226=
ENST00000458249.5:c.756C=	ENSP00000403929.1:n.756C=
ENST00000458249.6:c.*505C=	ENSP00000403929.1:n.*505C=
ENST00000503281.5:c.185C=
ENST00000503281.6:c.185C=
ENST00000509270.2:c.530C=	ENSP00000449318.2:p.Ala177=
ENST00000509459.5:c.144C=
ENST00000509459.6:c.144C=
ENST00000510111.6:c.509C=	ENSP00000447388.1:p.Ala170=
ENST00000511266.5:n.427C=
ENST00000511266.6:n.1318C=
ENST00000553117.5:c.596C=	ENSP00000448593.1:p.Ala199=
ENST00000635851.1:c.594C=
ENST00000636062.1:n.491C=
ENST00000636225.1:c.*405C=	ENSP00000490797.1:n.*405C=
ENST00000636286.1:n.314C=
ENST00000636743.1:c.476C=	ENSP00000489725.1:p.Ala159=
ENST00000636808.1:c.*405C=	ENSP00000490833.1:n.*405C=
ENST00000636872.1:c.756C=	ENSP00000490919.1:n.756C=
ENST00000636879.1:c.641C=	ENSP00000490811.1:p.Ala214=
ENST00000636886.1:c.395C=	ENSP00000490371.1:p.Ala132=
ENST00000637206.1:c.596C=	ENSP00000489895.1:p.Ala199=
ENST00000637272.1:c.596C=	ENSP00000489686.1:p.Ala199=
ENST00000637292.1:c.249C=
ENST00000637782.1:c.596C=	ENSP00000490024.1:p.Ala199=
ENST00000637964.1:c.542C=	ENSP00000490291.1:p.Ala181=
ENST00000638008.1:c.*538C=	ENSP00000490400.1:n.*538C=
XM_011543417.1:c.191C=	XP_011541719.1:p.Ala64=
XM_011543417.2:c.191C=	XP_011541719.1:p.Ala64=