Canonical Allele Identifier: CA446280136

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880693T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545001T>C , CM000667.2:g.126545001T>C	GRCh38
NC_000005.9:g.125880693T>C , CM000667.1:g.125880693T>C	GRCh37
NC_000005.8:g.125908592T>C	NCBI36
NG_008600.2:g.55390A>G
NG_008600.3:g.55390A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1584A>G MANE Select	ENSP00000387123.3:p.Lys528=
ENST00000458249.6:c.*1493A>G	ENSP00000403929.1:n.*1493A>G
ENST00000485852.7:n.331A>G
ENST00000497231.7:n.2011A>G
ENST00000635851.1:c.1563+1323A>G
ENST00000636286.1:n.1349A>G
ENST00000636482.1:n.1118A>G
ENST00000636743.1:c.1464A>G	ENSP00000489725.1:p.Lys488=
ENST00000636808.1:c.*1393A>G	ENSP00000490833.1:n.*1393A>G
ENST00000636872.1:c.1744A>G	ENSP00000490919.1:n.1744A>G
ENST00000636879.1:c.1629A>G	ENSP00000490811.1:p.Lys543=
ENST00000636886.1:c.1383A>G	ENSP00000490371.1:p.Lys461=
ENST00000637206.1:c.1404A>G	ENSP00000489895.1:p.Lys468=
ENST00000637272.1:c.1575A>G	ENSP00000489686.1:p.Lys525=
ENST00000637292.1:c.1040A>G
ENST00000637782.1:c.1565+1323A>G	ENSP00000490024.1:n.1565+1323A>G
ENST00000638008.1:c.*1428A>G	ENSP00000490400.1:n.*1428A>G
ENST00000638010.1:n.1530A>G
ENST00000409134.7:c.1584A>G	ENSP00000387123.3:p.Lys528=
ENST00000447989.6:c.1473A>G	ENSP00000414132.2:p.Lys491=
ENST00000485852.6:n.331A>G
ENST00000497231.6:n.1794A>G
ENST00000553117.5:c.1392A>G	ENSP00000448593.1:p.Lys464=
NM_001182.4:c.1584A>G	NP_001173.2:p.Lys528=
NM_001201377.1:c.1500A>G	NP_001188306.1:p.Lys500=
NM_001202404.1:c.1473A>G	NP_001189333.1:p.Lys491=
XM_011543417.1:c.1179A>G	XP_011541719.1:p.Lys393=
XM_011543417.2:c.1179A>G	XP_011541719.1:p.Lys393=
NM_001182.5:c.1584A>G MANE Select	NP_001173.2:p.Lys528=
NM_001201377.2:c.1500A>G	NP_001188306.1:p.Lys500=
NM_001202404.2:c.1392A>G	NP_001189333.2:p.Lys464=