Canonical Allele Identifier: CA360731024

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912793T>G (hg19) ; chr5:g.126577101T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577101T>G , CM000667.2:g.126577101T>G	GRCh38
NC_000005.9:g.125912793T>G , CM000667.1:g.125912793T>G	GRCh37
NC_000005.8:g.125940692T>G	NCBI36
NG_008600.2:g.23290A>C
NG_008600.3:g.23290A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.628A>C MANE Select	ENSP00000387123.3:p.Ile210Leu
ENST00000412186.2:c.504A>C	ENSP00000414536.2:n.504A>C
ENST00000413020.6:c.628A>C	ENSP00000487936.1:p.Ile210Leu
ENST00000458249.6:c.*537A>C	ENSP00000403929.1:n.*537A>C
ENST00000503281.6:c.217A>C
ENST00000509270.2:c.562A>C	ENSP00000449318.2:p.Ile188Leu
ENST00000509459.6:c.176A>C
ENST00000511266.6:n.1350A>C
ENST00000635851.1:c.626A>C
ENST00000636062.1:n.523A>C
ENST00000636225.1:c.*437A>C	ENSP00000490797.1:n.*437A>C
ENST00000636286.1:n.346A>C
ENST00000636743.1:c.508A>C	ENSP00000489725.1:p.Ile170Leu
ENST00000636808.1:c.*437A>C	ENSP00000490833.1:n.*437A>C
ENST00000636872.1:c.788A>C	ENSP00000490919.1:n.788A>C
ENST00000636879.1:c.673A>C	ENSP00000490811.1:p.Ile225Leu
ENST00000636886.1:c.427A>C	ENSP00000490371.1:p.Ile143Leu
ENST00000637206.1:c.628A>C	ENSP00000489895.1:p.Ile210Leu
ENST00000637272.1:c.628A>C	ENSP00000489686.1:p.Ile210Leu
ENST00000637292.1:c.281A>C
ENST00000637782.1:c.628A>C	ENSP00000490024.1:p.Ile210Leu
ENST00000637964.1:c.574A>C	ENSP00000490291.1:p.Ile192Leu
ENST00000638008.1:c.*570A>C	ENSP00000490400.1:n.*570A>C
ENST00000409134.7:c.628A>C	ENSP00000387123.3:p.Ile210Leu
ENST00000413020.5:c.628A>C	ENSP00000487936.1:p.Ile210Leu
ENST00000433026.5:n.155A>C
ENST00000447989.6:c.709A>C	ENSP00000414132.2:p.Ile237Leu
ENST00000458249.5:c.788A>C	ENSP00000403929.1:n.788A>C
ENST00000503281.5:c.217A>C
ENST00000509459.5:c.176A>C
ENST00000510111.6:c.541A>C	ENSP00000447388.1:p.Ile181Leu
ENST00000511266.5:n.459A>C
ENST00000553117.5:c.628A>C	ENSP00000448593.1:p.Ile210Leu
NM_001182.4:c.628A>C	NP_001173.2:p.Ile210Leu
NM_001201377.1:c.544A>C	NP_001188306.1:p.Ile182Leu
NM_001202404.1:c.709A>C	NP_001189333.1:p.Ile237Leu
XM_011543417.1:c.223A>C	XP_011541719.1:p.Ile75Leu
XM_011543417.2:c.223A>C	XP_011541719.1:p.Ile75Leu
NM_001182.5:c.628A>C MANE Select	NP_001173.2:p.Ile210Leu
NM_001201377.2:c.544A>C	NP_001188306.1:p.Ile182Leu
NM_001202404.2:c.628A>C	NP_001189333.2:p.Ile210Leu