Canonical Allele Identifier: CA360730949

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577085C>G , CM000667.2:g.126577085C>G	GRCh38
NC_000005.9:g.125912777C>G , CM000667.1:g.125912777C>G	GRCh37
NC_000005.8:g.125940676C>G	NCBI36
NG_008600.2:g.23306G>C
NG_008600.3:g.23306G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.644G>C MANE Select	ENSP00000387123.3:p.Cys215Ser
ENST00000412186.2:c.520G>C	ENSP00000414536.2:n.520G>C
ENST00000413020.6:c.644G>C	ENSP00000487936.1:p.Cys215Ser
ENST00000458249.6:c.*553G>C	ENSP00000403929.1:n.*553G>C
ENST00000503281.6:c.233G>C
ENST00000509270.2:c.578G>C	ENSP00000449318.2:p.Cys193Ser
ENST00000509459.6:c.192G>C
ENST00000511266.6:n.1366G>C
ENST00000635851.1:c.642G>C
ENST00000636062.1:n.539G>C
ENST00000636225.1:c.*453G>C	ENSP00000490797.1:n.*453G>C
ENST00000636286.1:n.362G>C
ENST00000636743.1:c.524G>C	ENSP00000489725.1:p.Cys175Ser
ENST00000636808.1:c.*453G>C	ENSP00000490833.1:n.*453G>C
ENST00000636872.1:c.804G>C	ENSP00000490919.1:n.804G>C
ENST00000636879.1:c.689G>C	ENSP00000490811.1:p.Cys230Ser
ENST00000636886.1:c.443G>C	ENSP00000490371.1:p.Cys148Ser
ENST00000637206.1:c.644G>C	ENSP00000489895.1:p.Cys215Ser
ENST00000637272.1:c.644G>C	ENSP00000489686.1:p.Cys215Ser
ENST00000637292.1:c.297G>C
ENST00000637782.1:c.644G>C	ENSP00000490024.1:p.Cys215Ser
ENST00000637964.1:c.590G>C	ENSP00000490291.1:p.Cys197Ser
ENST00000638008.1:c.*586G>C	ENSP00000490400.1:n.*586G>C
ENST00000409134.7:c.644G>C	ENSP00000387123.3:p.Cys215Ser
ENST00000413020.5:c.644G>C	ENSP00000487936.1:p.Cys215Ser
ENST00000433026.5:n.171G>C
ENST00000447989.6:c.725G>C	ENSP00000414132.2:p.Cys242Ser
ENST00000458249.5:c.804G>C	ENSP00000403929.1:n.804G>C
ENST00000503281.5:c.233G>C
ENST00000509459.5:c.192G>C
ENST00000510111.6:c.557G>C	ENSP00000447388.1:p.Cys186Ser
ENST00000511266.5:n.475G>C
ENST00000553117.5:c.644G>C	ENSP00000448593.1:p.Cys215Ser
NM_001182.4:c.644G>C	NP_001173.2:p.Cys215Ser
NM_001201377.1:c.560G>C	NP_001188306.1:p.Cys187Ser
NM_001202404.1:c.725G>C	NP_001189333.1:p.Cys242Ser
XM_011543417.1:c.239G>C	XP_011541719.1:p.Cys80Ser
XM_011543417.2:c.239G>C	XP_011541719.1:p.Cys80Ser
NM_001182.5:c.644G>C MANE Select	NP_001173.2:p.Cys215Ser
NM_001201377.2:c.560G>C	NP_001188306.1:p.Cys187Ser
NM_001202404.2:c.644G>C	NP_001189333.2:p.Cys215Ser