Canonical Allele Identifier: CA360717700

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880682A>T (hg19) ; chr5:g.126544990A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544990A>T , CM000667.2:g.126544990A>T	GRCh38
NC_000005.9:g.125880682A>T , CM000667.1:g.125880682A>T	GRCh37
NC_000005.8:g.125908581A>T	NCBI36
NG_008600.2:g.55401T>A
NG_008600.3:g.55401T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1595T>A MANE Select	ENSP00000387123.3:p.Leu532Gln
ENST00000458249.6:c.*1504T>A	ENSP00000403929.1:n.*1504T>A
ENST00000485852.7:n.342T>A
ENST00000497231.7:n.2022T>A
ENST00000635851.1:c.1563+1334T>A
ENST00000636286.1:n.1360T>A
ENST00000636482.1:n.1129T>A
ENST00000636743.1:c.1475T>A	ENSP00000489725.1:p.Leu492Gln
ENST00000636808.1:c.*1404T>A	ENSP00000490833.1:n.*1404T>A
ENST00000636872.1:c.1755T>A	ENSP00000490919.1:n.1755T>A
ENST00000636879.1:c.1640T>A	ENSP00000490811.1:p.Leu547Gln
ENST00000636886.1:c.1394T>A	ENSP00000490371.1:p.Leu465Gln
ENST00000637206.1:c.1415T>A	ENSP00000489895.1:p.Leu472Gln
ENST00000637272.1:c.1586T>A	ENSP00000489686.1:p.Leu529Gln
ENST00000637292.1:c.1051T>A
ENST00000637782.1:c.1565+1334T>A	ENSP00000490024.1:n.1565+1334T>A
ENST00000638008.1:c.*1439T>A	ENSP00000490400.1:n.*1439T>A
ENST00000638010.1:n.1541T>A
ENST00000409134.7:c.1595T>A	ENSP00000387123.3:p.Leu532Gln
ENST00000447989.6:c.1484T>A	ENSP00000414132.2:p.Leu495Gln
ENST00000485852.6:n.342T>A
ENST00000497231.6:n.1805T>A
ENST00000553117.5:c.1403T>A	ENSP00000448593.1:p.Leu468Gln
NM_001182.4:c.1595T>A	NP_001173.2:p.Leu532Gln
NM_001201377.1:c.1511T>A	NP_001188306.1:p.Leu504Gln
NM_001202404.1:c.1484T>A	NP_001189333.1:p.Leu495Gln
XM_011543417.1:c.1190T>A	XP_011541719.1:p.Leu397Gln
XM_011543417.2:c.1190T>A	XP_011541719.1:p.Leu397Gln
NM_001182.5:c.1595T>A MANE Select	NP_001173.2:p.Leu532Gln
NM_001201377.2:c.1511T>A	NP_001188306.1:p.Leu504Gln
NM_001202404.2:c.1403T>A	NP_001189333.2:p.Leu468Gln