Canonical Allele Identifier: CA446280134

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880690G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544998G>A , CM000667.2:g.126544998G>A	GRCh38
NC_000005.9:g.125880690G>A , CM000667.1:g.125880690G>A	GRCh37
NC_000005.8:g.125908589G>A	NCBI36
NG_008600.2:g.55393C>T
NG_008600.3:g.55393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1587C>T MANE Select	ENSP00000387123.3:p.Asp529=
ENST00000458249.6:c.*1496C>T	ENSP00000403929.1:n.*1496C>T
ENST00000485852.7:n.334C>T
ENST00000497231.7:n.2014C>T
ENST00000635851.1:c.1563+1326C>T
ENST00000636286.1:n.1352C>T
ENST00000636482.1:n.1121C>T
ENST00000636743.1:c.1467C>T	ENSP00000489725.1:p.Asp489=
ENST00000636808.1:c.*1396C>T	ENSP00000490833.1:n.*1396C>T
ENST00000636872.1:c.1747C>T	ENSP00000490919.1:n.1747C>T
ENST00000636879.1:c.1632C>T	ENSP00000490811.1:p.Asp544=
ENST00000636886.1:c.1386C>T	ENSP00000490371.1:p.Asp462=
ENST00000637206.1:c.1407C>T	ENSP00000489895.1:p.Asp469=
ENST00000637272.1:c.1578C>T	ENSP00000489686.1:p.Asp526=
ENST00000637292.1:c.1043C>T
ENST00000637782.1:c.1565+1326C>T	ENSP00000490024.1:n.1565+1326C>T
ENST00000638008.1:c.*1431C>T	ENSP00000490400.1:n.*1431C>T
ENST00000638010.1:n.1533C>T
ENST00000409134.7:c.1587C>T	ENSP00000387123.3:p.Asp529=
ENST00000447989.6:c.1476C>T	ENSP00000414132.2:p.Asp492=
ENST00000485852.6:n.334C>T
ENST00000497231.6:n.1797C>T
ENST00000553117.5:c.1395C>T	ENSP00000448593.1:p.Asp465=
NM_001182.4:c.1587C>T	NP_001173.2:p.Asp529=
NM_001201377.1:c.1503C>T	NP_001188306.1:p.Asp501=
NM_001202404.1:c.1476C>T	NP_001189333.1:p.Asp492=
XM_011543417.1:c.1182C>T	XP_011541719.1:p.Asp394=
XM_011543417.2:c.1182C>T	XP_011541719.1:p.Asp394=
NM_001182.5:c.1587C>T MANE Select	NP_001173.2:p.Asp529=
NM_001201377.2:c.1503C>T	NP_001188306.1:p.Asp501=
NM_001202404.2:c.1395C>T	NP_001189333.2:p.Asp465=