Canonical Allele Identifier: CA360723289

Gene: ALDH7A1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552106G>T , CM000667.2:g.126552106G>T	GRCh38
NC_000005.9:g.125887798G>T , CM000667.1:g.125887798G>T	GRCh37
NC_000005.8:g.125915697G>T	NCBI36
NG_008600.2:g.48285C>A
NG_008600.3:g.48285C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1232C>A MANE Select	ENSP00000387123.3:p.Pro411Gln
ENST00000458249.6:c.*1141C>A	ENSP00000403929.1:n.*1141C>A
ENST00000497231.7:n.1659C>A
ENST00000503281.6:c.821C>A
ENST00000635851.1:c.1230C>A
ENST00000636062.1:n.1127C>A
ENST00000636225.1:c.*1176C>A	ENSP00000490797.1:n.*1176C>A
ENST00000636286.1:n.950C>A
ENST00000636482.1:n.719C>A
ENST00000636743.1:c.1112C>A	ENSP00000489725.1:p.Pro371Gln
ENST00000636808.1:c.*1041C>A	ENSP00000490833.1:n.*1041C>A
ENST00000636872.1:c.1392C>A	ENSP00000490919.1:n.1392C>A
ENST00000636879.1:c.1277C>A	ENSP00000490811.1:p.Pro426Gln
ENST00000636886.1:c.1031C>A	ENSP00000490371.1:p.Pro344Gln
ENST00000637206.1:c.1052C>A	ENSP00000489895.1:p.Pro351Gln
ENST00000637272.1:c.1223C>A	ENSP00000489686.1:p.Pro408Gln
ENST00000637292.1:c.774-1813C>A
ENST00000637782.1:c.1232C>A	ENSP00000490024.1:p.Pro411Gln
ENST00000638008.1:c.*1076C>A	ENSP00000490400.1:n.*1076C>A
ENST00000638010.1:n.1178C>A
ENST00000409134.7:c.1232C>A	ENSP00000387123.3:p.Pro411Gln
ENST00000447989.6:c.1121C>A	ENSP00000414132.2:p.Pro374Gln
ENST00000497231.6:n.1442C>A
ENST00000503281.5:c.821C>A
ENST00000553117.5:c.1040C>A	ENSP00000448593.1:p.Pro347Gln
NM_001182.4:c.1232C>A	NP_001173.2:p.Pro411Gln
NM_001201377.1:c.1148C>A	NP_001188306.1:p.Pro383Gln
NM_001202404.1:c.1121C>A	NP_001189333.1:p.Pro374Gln
XM_011543417.1:c.827C>A	XP_011541719.1:p.Pro276Gln
XM_011543417.2:c.827C>A	XP_011541719.1:p.Pro276Gln
NM_001182.5:c.1232C>A MANE Select	NP_001173.2:p.Pro411Gln
NM_001201377.2:c.1148C>A	NP_001188306.1:p.Pro383Gln
NM_001202404.2:c.1040C>A	NP_001189333.2:p.Pro347Gln