Canonical Allele Identifier: CA360731015

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912790A>G (hg19) ; chr5:g.126577098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577098A>G , CM000667.2:g.126577098A>G	GRCh38
NC_000005.9:g.125912790A>G , CM000667.1:g.125912790A>G	GRCh37
NC_000005.8:g.125940689A>G	NCBI36
NG_008600.2:g.23293T>C
NG_008600.3:g.23293T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.631T>C MANE Select	ENSP00000387123.3:p.Cys211Arg
ENST00000412186.2:c.507T>C	ENSP00000414536.2:n.507T>C
ENST00000413020.6:c.631T>C	ENSP00000487936.1:p.Cys211Arg
ENST00000458249.6:c.*540T>C	ENSP00000403929.1:n.*540T>C
ENST00000503281.6:c.220T>C
ENST00000509270.2:c.565T>C	ENSP00000449318.2:p.Cys189Arg
ENST00000509459.6:c.179T>C
ENST00000511266.6:n.1353T>C
ENST00000635851.1:c.629T>C
ENST00000636062.1:n.526T>C
ENST00000636225.1:c.*440T>C	ENSP00000490797.1:n.*440T>C
ENST00000636286.1:n.349T>C
ENST00000636743.1:c.511T>C	ENSP00000489725.1:p.Cys171Arg
ENST00000636808.1:c.*440T>C	ENSP00000490833.1:n.*440T>C
ENST00000636872.1:c.791T>C	ENSP00000490919.1:n.791T>C
ENST00000636879.1:c.676T>C	ENSP00000490811.1:p.Cys226Arg
ENST00000636886.1:c.430T>C	ENSP00000490371.1:p.Cys144Arg
ENST00000637206.1:c.631T>C	ENSP00000489895.1:p.Cys211Arg
ENST00000637272.1:c.631T>C	ENSP00000489686.1:p.Cys211Arg
ENST00000637292.1:c.284T>C
ENST00000637782.1:c.631T>C	ENSP00000490024.1:p.Cys211Arg
ENST00000637964.1:c.577T>C	ENSP00000490291.1:p.Cys193Arg
ENST00000638008.1:c.*573T>C	ENSP00000490400.1:n.*573T>C
ENST00000409134.7:c.631T>C	ENSP00000387123.3:p.Cys211Arg
ENST00000413020.5:c.631T>C	ENSP00000487936.1:p.Cys211Arg
ENST00000433026.5:n.158T>C
ENST00000447989.6:c.712T>C	ENSP00000414132.2:p.Cys238Arg
ENST00000458249.5:c.791T>C	ENSP00000403929.1:n.791T>C
ENST00000503281.5:c.220T>C
ENST00000509459.5:c.179T>C
ENST00000510111.6:c.544T>C	ENSP00000447388.1:p.Cys182Arg
ENST00000511266.5:n.462T>C
ENST00000553117.5:c.631T>C	ENSP00000448593.1:p.Cys211Arg
NM_001182.4:c.631T>C	NP_001173.2:p.Cys211Arg
NM_001201377.1:c.547T>C	NP_001188306.1:p.Cys183Arg
NM_001202404.1:c.712T>C	NP_001189333.1:p.Cys238Arg
XM_011543417.1:c.226T>C	XP_011541719.1:p.Cys76Arg
XM_011543417.2:c.226T>C	XP_011541719.1:p.Cys76Arg
NM_001182.5:c.631T>C MANE Select	NP_001173.2:p.Cys211Arg
NM_001201377.2:c.547T>C	NP_001188306.1:p.Cys183Arg
NM_001202404.2:c.631T>C	NP_001189333.2:p.Cys211Arg