Canonical Allele Identifier: CA360730955

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912778A>G (hg19) ; chr5:g.126577086A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577086A>G , CM000667.2:g.126577086A>G	GRCh38
NC_000005.9:g.125912778A>G , CM000667.1:g.125912778A>G	GRCh37
NC_000005.8:g.125940677A>G	NCBI36
NG_008600.2:g.23305T>C
NG_008600.3:g.23305T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.643T>C MANE Select	ENSP00000387123.3:p.Cys215Arg
ENST00000412186.2:c.519T>C	ENSP00000414536.2:n.519T>C
ENST00000413020.6:c.643T>C	ENSP00000487936.1:p.Cys215Arg
ENST00000458249.6:c.*552T>C	ENSP00000403929.1:n.*552T>C
ENST00000503281.6:c.232T>C
ENST00000509270.2:c.577T>C	ENSP00000449318.2:p.Cys193Arg
ENST00000509459.6:c.191T>C
ENST00000511266.6:n.1365T>C
ENST00000635851.1:c.641T>C
ENST00000636062.1:n.538T>C
ENST00000636225.1:c.*452T>C	ENSP00000490797.1:n.*452T>C
ENST00000636286.1:n.361T>C
ENST00000636743.1:c.523T>C	ENSP00000489725.1:p.Cys175Arg
ENST00000636808.1:c.*452T>C	ENSP00000490833.1:n.*452T>C
ENST00000636872.1:c.803T>C	ENSP00000490919.1:n.803T>C
ENST00000636879.1:c.688T>C	ENSP00000490811.1:p.Cys230Arg
ENST00000636886.1:c.442T>C	ENSP00000490371.1:p.Cys148Arg
ENST00000637206.1:c.643T>C	ENSP00000489895.1:p.Cys215Arg
ENST00000637272.1:c.643T>C	ENSP00000489686.1:p.Cys215Arg
ENST00000637292.1:c.296T>C
ENST00000637782.1:c.643T>C	ENSP00000490024.1:p.Cys215Arg
ENST00000637964.1:c.589T>C	ENSP00000490291.1:p.Cys197Arg
ENST00000638008.1:c.*585T>C	ENSP00000490400.1:n.*585T>C
ENST00000409134.7:c.643T>C	ENSP00000387123.3:p.Cys215Arg
ENST00000413020.5:c.643T>C	ENSP00000487936.1:p.Cys215Arg
ENST00000433026.5:n.170T>C
ENST00000447989.6:c.724T>C	ENSP00000414132.2:p.Cys242Arg
ENST00000458249.5:c.803T>C	ENSP00000403929.1:n.803T>C
ENST00000503281.5:c.232T>C
ENST00000509459.5:c.191T>C
ENST00000510111.6:c.556T>C	ENSP00000447388.1:p.Cys186Arg
ENST00000511266.5:n.474T>C
ENST00000553117.5:c.643T>C	ENSP00000448593.1:p.Cys215Arg
NM_001182.4:c.643T>C	NP_001173.2:p.Cys215Arg
NM_001201377.1:c.559T>C	NP_001188306.1:p.Cys187Arg
NM_001202404.1:c.724T>C	NP_001189333.1:p.Cys242Arg
XM_011543417.1:c.238T>C	XP_011541719.1:p.Cys80Arg
XM_011543417.2:c.238T>C	XP_011541719.1:p.Cys80Arg
NM_001182.5:c.643T>C MANE Select	NP_001173.2:p.Cys215Arg
NM_001201377.2:c.559T>C	NP_001188306.1:p.Cys187Arg
NM_001202404.2:c.643T>C	NP_001189333.2:p.Cys215Arg