Canonical Allele Identifier: CA360722597

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887714T>G (hg19) ; chr5:g.126552022T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552022T>G , CM000667.2:g.126552022T>G	GRCh38
NC_000005.9:g.125887714T>G , CM000667.1:g.125887714T>G	GRCh37
NC_000005.8:g.125915613T>G	NCBI36
NG_008600.2:g.48369A>C
NG_008600.3:g.48369A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1316A>C MANE Select	ENSP00000387123.3:p.Lys439Thr
ENST00000458249.6:c.*1225A>C	ENSP00000403929.1:n.*1225A>C
ENST00000497231.7:n.1743A>C
ENST00000503281.6:c.905A>C
ENST00000635851.1:c.1314A>C
ENST00000636062.1:n.1211A>C
ENST00000636225.1:c.*1260A>C	ENSP00000490797.1:n.*1260A>C
ENST00000636286.1:n.1034A>C
ENST00000636482.1:n.803A>C
ENST00000636743.1:c.1196A>C	ENSP00000489725.1:p.Lys399Thr
ENST00000636808.1:c.*1125A>C	ENSP00000490833.1:n.*1125A>C
ENST00000636872.1:c.1476A>C	ENSP00000490919.1:n.1476A>C
ENST00000636879.1:c.1361A>C	ENSP00000490811.1:p.Lys454Thr
ENST00000636886.1:c.1115A>C	ENSP00000490371.1:p.Lys372Thr
ENST00000637206.1:c.1136A>C	ENSP00000489895.1:p.Lys379Thr
ENST00000637272.1:c.1307A>C	ENSP00000489686.1:p.Lys436Thr
ENST00000637292.1:c.774-1729A>C
ENST00000637782.1:c.1316A>C	ENSP00000490024.1:p.Lys439Thr
ENST00000638008.1:c.*1160A>C	ENSP00000490400.1:n.*1160A>C
ENST00000638010.1:n.1262A>C
ENST00000409134.7:c.1316A>C	ENSP00000387123.3:p.Lys439Thr
ENST00000447989.6:c.1205A>C	ENSP00000414132.2:p.Lys402Thr
ENST00000476328.1:n.81A>C
ENST00000497231.6:n.1526A>C
ENST00000503281.5:c.905A>C
ENST00000553117.5:c.1124A>C	ENSP00000448593.1:p.Lys375Thr
NM_001182.4:c.1316A>C	NP_001173.2:p.Lys439Thr
NM_001201377.1:c.1232A>C	NP_001188306.1:p.Lys411Thr
NM_001202404.1:c.1205A>C	NP_001189333.1:p.Lys402Thr
XM_011543417.1:c.911A>C	XP_011541719.1:p.Lys304Thr
XM_011543417.2:c.911A>C	XP_011541719.1:p.Lys304Thr
NM_001182.5:c.1316A>C MANE Select	NP_001173.2:p.Lys439Thr
NM_001201377.2:c.1232A>C	NP_001188306.1:p.Lys411Thr
NM_001202404.2:c.1124A>C	NP_001189333.2:p.Lys375Thr