Canonical Allele Identifier: CA360726638

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559262C>G , CM000667.2:g.126559262C>G	GRCh38
NC_000005.9:g.125894954C>G , CM000667.1:g.125894954C>G	GRCh37
NC_000005.8:g.125922853C>G	NCBI36
NG_008600.2:g.41129G>C
NG_008600.3:g.41129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.986G>C MANE Select	ENSP00000387123.3:p.Arg329Thr
ENST00000458249.6:c.*895G>C	ENSP00000403929.1:n.*895G>C
ENST00000497231.7:n.1413G>C
ENST00000503281.6:c.575G>C
ENST00000509459.6:c.495G>C
ENST00000635851.1:c.984G>C
ENST00000636062.1:n.881G>C
ENST00000636225.1:c.*930G>C	ENSP00000490797.1:n.*930G>C
ENST00000636286.1:n.704G>C
ENST00000636482.1:n.473G>C
ENST00000636743.1:c.866G>C	ENSP00000489725.1:p.Arg289Thr
ENST00000636808.1:c.*795G>C	ENSP00000490833.1:n.*795G>C
ENST00000636872.1:c.1146G>C	ENSP00000490919.1:n.1146G>C
ENST00000636879.1:c.1031G>C	ENSP00000490811.1:p.Arg344Thr
ENST00000636886.1:c.785G>C	ENSP00000490371.1:p.Arg262Thr
ENST00000637206.1:c.913+1821G>C	ENSP00000489895.1:n.913+1821G>C
ENST00000637272.1:c.977G>C	ENSP00000489686.1:p.Arg326Thr
ENST00000637292.1:c.559G>C
ENST00000637782.1:c.986G>C	ENSP00000490024.1:p.Arg329Thr
ENST00000637964.1:c.932G>C	ENSP00000490291.1:p.Arg311Thr
ENST00000638008.1:c.*830G>C	ENSP00000490400.1:n.*830G>C
ENST00000409134.7:c.986G>C	ENSP00000387123.3:p.Arg329Thr
ENST00000447989.6:c.1067G>C	ENSP00000414132.2:p.Arg356Thr
ENST00000497231.6:n.1196G>C
ENST00000503281.5:c.575G>C
ENST00000509459.5:c.495G>C
ENST00000553117.5:c.986G>C	ENSP00000448593.1:p.Arg329Thr
NM_001182.4:c.986G>C	NP_001173.2:p.Arg329Thr
NM_001201377.1:c.902G>C	NP_001188306.1:p.Arg301Thr
NM_001202404.1:c.1067G>C	NP_001189333.1:p.Arg356Thr
XM_011543417.1:c.581G>C	XP_011541719.1:p.Arg194Thr
XM_011543417.2:c.581G>C	XP_011541719.1:p.Arg194Thr
NM_001182.5:c.986G>C MANE Select	NP_001173.2:p.Arg329Thr
NM_001201377.2:c.902G>C	NP_001188306.1:p.Arg301Thr
NM_001202404.2:c.986G>C	NP_001189333.2:p.Arg329Thr