Canonical Allele Identifier: CA1580442781

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126549976A= , CM000667.2:g.126549976A=	GRCh38
NC_000005.9:g.125885668A= , CM000667.1:g.125885668A=	GRCh37
NC_000005.8:g.125913567A=	NCBI36
NG_008600.2:g.50415T=
NG_008600.3:g.50415T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1442T= MANE Select	NP_001173.2:p.Val481=
ENST00000409134.8:c.1442T= MANE Select	ENSP00000387123.3:p.Val481=
NM_001182.4:c.1442T=	NP_001173.2:p.Val481=
NM_001201377.1:c.1358T=	NP_001188306.1:p.Val453=
NM_001201377.2:c.1358T=	NP_001188306.1:p.Val453=
NM_001202404.1:c.1331T=	NP_001189333.1:p.Val444=
NM_001202404.2:c.1250T=	NP_001189333.2:p.Val417=
ENST00000409134.7:c.1442T=	ENSP00000387123.3:p.Val481=
ENST00000447989.6:c.1331T=	ENSP00000414132.2:p.Val444=
ENST00000458249.6:c.*1351T=	ENSP00000403929.1:n.*1351T=
ENST00000476328.1:n.400T=
ENST00000485852.6:n.189T=
ENST00000485852.7:n.189T=
ENST00000497231.6:n.1652T=
ENST00000497231.7:n.1869T=
ENST00000553117.5:c.1250T=	ENSP00000448593.1:p.Val417=
ENST00000635851.1:c.1440T=
ENST00000636062.1:n.1337T=
ENST00000636225.1:c.*1386T=	ENSP00000490797.1:n.*1386T=
ENST00000636286.1:n.1207T=
ENST00000636482.1:n.976T=
ENST00000636743.1:c.1322T=	ENSP00000489725.1:p.Val441=
ENST00000636808.1:c.*1251T=	ENSP00000490833.1:n.*1251T=
ENST00000636872.1:c.1602T=	ENSP00000490919.1:n.1602T=
ENST00000636879.1:c.1487T=	ENSP00000490811.1:p.Val496=
ENST00000636886.1:c.1241T=	ENSP00000490371.1:p.Val414=
ENST00000637206.1:c.1262T=	ENSP00000489895.1:p.Val421=
ENST00000637272.1:c.1433T=	ENSP00000489686.1:p.Val478=
ENST00000637292.1:c.898T=
ENST00000637782.1:c.1442T=	ENSP00000490024.1:p.Val481=
ENST00000638008.1:c.*1286T=	ENSP00000490400.1:n.*1286T=
ENST00000638010.1:n.1388T=
XM_011543417.1:c.1037T=	XP_011541719.1:p.Val346=
XM_011543417.2:c.1037T=	XP_011541719.1:p.Val346=