Canonical Allele Identifier: CA446280131

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880687A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544995A>G , CM000667.2:g.126544995A>G	GRCh38
NC_000005.9:g.125880687A>G , CM000667.1:g.125880687A>G	GRCh37
NC_000005.8:g.125908586A>G	NCBI36
NG_008600.2:g.55396T>C
NG_008600.3:g.55396T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1590T>C MANE Select	ENSP00000387123.3:p.Leu530=
ENST00000458249.6:c.*1499T>C	ENSP00000403929.1:n.*1499T>C
ENST00000485852.7:n.337T>C
ENST00000497231.7:n.2017T>C
ENST00000635851.1:c.1563+1329T>C
ENST00000636286.1:n.1355T>C
ENST00000636482.1:n.1124T>C
ENST00000636743.1:c.1470T>C	ENSP00000489725.1:p.Leu490=
ENST00000636808.1:c.*1399T>C	ENSP00000490833.1:n.*1399T>C
ENST00000636872.1:c.1750T>C	ENSP00000490919.1:n.1750T>C
ENST00000636879.1:c.1635T>C	ENSP00000490811.1:p.Leu545=
ENST00000636886.1:c.1389T>C	ENSP00000490371.1:p.Leu463=
ENST00000637206.1:c.1410T>C	ENSP00000489895.1:p.Leu470=
ENST00000637272.1:c.1581T>C	ENSP00000489686.1:p.Leu527=
ENST00000637292.1:c.1046T>C
ENST00000637782.1:c.1565+1329T>C	ENSP00000490024.1:n.1565+1329T>C
ENST00000638008.1:c.*1434T>C	ENSP00000490400.1:n.*1434T>C
ENST00000638010.1:n.1536T>C
ENST00000409134.7:c.1590T>C	ENSP00000387123.3:p.Leu530=
ENST00000447989.6:c.1479T>C	ENSP00000414132.2:p.Leu493=
ENST00000485852.6:n.337T>C
ENST00000497231.6:n.1800T>C
ENST00000553117.5:c.1398T>C	ENSP00000448593.1:p.Leu466=
NM_001182.4:c.1590T>C	NP_001173.2:p.Leu530=
NM_001201377.1:c.1506T>C	NP_001188306.1:p.Leu502=
NM_001202404.1:c.1479T>C	NP_001189333.1:p.Leu493=
XM_011543417.1:c.1185T>C	XP_011541719.1:p.Leu395=
XM_011543417.2:c.1185T>C	XP_011541719.1:p.Leu395=
NM_001182.5:c.1590T>C MANE Select	NP_001173.2:p.Leu530=
NM_001201377.2:c.1506T>C	NP_001188306.1:p.Leu502=
NM_001202404.2:c.1398T>C	NP_001189333.2:p.Leu466=