Canonical Allele Identifier: CA360717765

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880688A>C (hg19) ; chr5:g.126544996A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544996A>C , CM000667.2:g.126544996A>C	GRCh38
NC_000005.9:g.125880688A>C , CM000667.1:g.125880688A>C	GRCh37
NC_000005.8:g.125908587A>C	NCBI36
NG_008600.2:g.55395T>G
NG_008600.3:g.55395T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1589T>G MANE Select	ENSP00000387123.3:p.Leu530Arg
ENST00000458249.6:c.*1498T>G	ENSP00000403929.1:n.*1498T>G
ENST00000485852.7:n.336T>G
ENST00000497231.7:n.2016T>G
ENST00000635851.1:c.1563+1328T>G
ENST00000636286.1:n.1354T>G
ENST00000636482.1:n.1123T>G
ENST00000636743.1:c.1469T>G	ENSP00000489725.1:p.Leu490Arg
ENST00000636808.1:c.*1398T>G	ENSP00000490833.1:n.*1398T>G
ENST00000636872.1:c.1749T>G	ENSP00000490919.1:n.1749T>G
ENST00000636879.1:c.1634T>G	ENSP00000490811.1:p.Leu545Arg
ENST00000636886.1:c.1388T>G	ENSP00000490371.1:p.Leu463Arg
ENST00000637206.1:c.1409T>G	ENSP00000489895.1:p.Leu470Arg
ENST00000637272.1:c.1580T>G	ENSP00000489686.1:p.Leu527Arg
ENST00000637292.1:c.1045T>G
ENST00000637782.1:c.1565+1328T>G	ENSP00000490024.1:n.1565+1328T>G
ENST00000638008.1:c.*1433T>G	ENSP00000490400.1:n.*1433T>G
ENST00000638010.1:n.1535T>G
ENST00000409134.7:c.1589T>G	ENSP00000387123.3:p.Leu530Arg
ENST00000447989.6:c.1478T>G	ENSP00000414132.2:p.Leu493Arg
ENST00000485852.6:n.336T>G
ENST00000497231.6:n.1799T>G
ENST00000553117.5:c.1397T>G	ENSP00000448593.1:p.Leu466Arg
NM_001182.4:c.1589T>G	NP_001173.2:p.Leu530Arg
NM_001201377.1:c.1505T>G	NP_001188306.1:p.Leu502Arg
NM_001202404.1:c.1478T>G	NP_001189333.1:p.Leu493Arg
XM_011543417.1:c.1184T>G	XP_011541719.1:p.Leu395Arg
XM_011543417.2:c.1184T>G	XP_011541719.1:p.Leu395Arg
NM_001182.5:c.1589T>G MANE Select	NP_001173.2:p.Leu530Arg
NM_001201377.2:c.1505T>G	NP_001188306.1:p.Leu502Arg
NM_001202404.2:c.1397T>G	NP_001189333.2:p.Leu466Arg