Canonical Allele Identifier: CA126887613

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126554376G>A , CM000667.2:g.126554376G>A	GRCh38
NC_000005.9:g.125890068G>A , CM000667.1:g.125890068G>A	GRCh37
NC_000005.8:g.125917967G>A	NCBI36
NG_008600.2:g.46015C>T
NG_008600.3:g.46015C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1111C>T MANE Select	NP_001173.2:p.Pro371Ser
ENST00000409134.8:c.1111C>T MANE Select	ENSP00000387123.3:p.Pro371Ser
NM_001182.4:c.1111C>T	NP_001173.2:p.Pro371Ser
NM_001201377.1:c.1027C>T	NP_001188306.1:p.Pro343Ser
NM_001201377.2:c.1027C>T	NP_001188306.1:p.Pro343Ser
NM_001202404.1:c.1090-2239C>T	NP_001189333.1:n.1090-2239C>T
NM_001202404.2:c.1009-2239C>T	NP_001189333.2:n.1009-2239C>T
ENST00000409134.7:c.1111C>T	ENSP00000387123.3:p.Pro371Ser
ENST00000447989.6:c.1090-2239C>T	ENSP00000414132.2:n.1090-2239C>T
ENST00000458249.6:c.*1020C>T	ENSP00000403929.1:n.*1020C>T
ENST00000497231.6:n.1321C>T
ENST00000497231.7:n.1538C>T
ENST00000503281.5:c.700C>T
ENST00000503281.6:c.700C>T
ENST00000553117.5:c.1009-2239C>T	ENSP00000448593.1:n.1009-2239C>T
ENST00000635851.1:c.1109C>T
ENST00000636062.1:n.1006C>T
ENST00000636225.1:c.*1055C>T	ENSP00000490797.1:n.*1055C>T
ENST00000636286.1:n.829C>T
ENST00000636482.1:n.598C>T
ENST00000636743.1:c.991C>T	ENSP00000489725.1:p.Pro331Ser
ENST00000636808.1:c.*920C>T	ENSP00000490833.1:n.*920C>T
ENST00000636872.1:c.1271C>T	ENSP00000490919.1:n.1271C>T
ENST00000636879.1:c.1156C>T	ENSP00000490811.1:p.Pro386Ser
ENST00000636886.1:c.910C>T	ENSP00000490371.1:p.Pro304Ser
ENST00000637206.1:c.931C>T	ENSP00000489895.1:p.Pro311Ser
ENST00000637272.1:c.1102C>T	ENSP00000489686.1:p.Pro368Ser
ENST00000637292.1:c.684C>T
ENST00000637782.1:c.1111C>T	ENSP00000490024.1:p.Pro371Ser
ENST00000638008.1:c.*955C>T	ENSP00000490400.1:n.*955C>T
ENST00000638010.1:n.1057C>T
XM_011543417.1:c.706C>T	XP_011541719.1:p.Pro236Ser
XM_011543417.2:c.706C>T	XP_011541719.1:p.Pro236Ser