Canonical Allele Identifier: CA446283955

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577087G>A , CM000667.2:g.126577087G>A	GRCh38
NC_000005.9:g.125912779G>A , CM000667.1:g.125912779G>A	GRCh37
NC_000005.8:g.125940678G>A	NCBI36
NG_008600.2:g.23304C>T
NG_008600.3:g.23304C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.642C>T MANE Select	ENSP00000387123.3:p.Val214=
ENST00000412186.2:c.518C>T	ENSP00000414536.2:n.518C>T
ENST00000413020.6:c.642C>T	ENSP00000487936.1:p.Val214=
ENST00000458249.6:c.*551C>T	ENSP00000403929.1:n.*551C>T
ENST00000503281.6:c.231C>T
ENST00000509270.2:c.576C>T	ENSP00000449318.2:p.Val192=
ENST00000509459.6:c.190C>T
ENST00000511266.6:n.1364C>T
ENST00000635851.1:c.640C>T
ENST00000636062.1:n.537C>T
ENST00000636225.1:c.*451C>T	ENSP00000490797.1:n.*451C>T
ENST00000636286.1:n.360C>T
ENST00000636743.1:c.522C>T	ENSP00000489725.1:p.Val174=
ENST00000636808.1:c.*451C>T	ENSP00000490833.1:n.*451C>T
ENST00000636872.1:c.802C>T	ENSP00000490919.1:n.802C>T
ENST00000636879.1:c.687C>T	ENSP00000490811.1:p.Val229=
ENST00000636886.1:c.441C>T	ENSP00000490371.1:p.Val147=
ENST00000637206.1:c.642C>T	ENSP00000489895.1:p.Val214=
ENST00000637272.1:c.642C>T	ENSP00000489686.1:p.Val214=
ENST00000637292.1:c.295C>T
ENST00000637782.1:c.642C>T	ENSP00000490024.1:p.Val214=
ENST00000637964.1:c.588C>T	ENSP00000490291.1:p.Val196=
ENST00000638008.1:c.*584C>T	ENSP00000490400.1:n.*584C>T
ENST00000409134.7:c.642C>T	ENSP00000387123.3:p.Val214=
ENST00000413020.5:c.642C>T	ENSP00000487936.1:p.Val214=
ENST00000433026.5:n.169C>T
ENST00000447989.6:c.723C>T	ENSP00000414132.2:p.Val241=
ENST00000458249.5:c.802C>T	ENSP00000403929.1:n.802C>T
ENST00000503281.5:c.231C>T
ENST00000509459.5:c.190C>T
ENST00000510111.6:c.555C>T	ENSP00000447388.1:p.Val185=
ENST00000511266.5:n.473C>T
ENST00000553117.5:c.642C>T	ENSP00000448593.1:p.Val214=
NM_001182.4:c.642C>T	NP_001173.2:p.Val214=
NM_001201377.1:c.558C>T	NP_001188306.1:p.Val186=
NM_001202404.1:c.723C>T	NP_001189333.1:p.Val241=
XM_011543417.1:c.237C>T	XP_011541719.1:p.Val79=
XM_011543417.2:c.237C>T	XP_011541719.1:p.Val79=
NM_001182.5:c.642C>T MANE Select	NP_001173.2:p.Val214=
NM_001201377.2:c.558C>T	NP_001188306.1:p.Val186=
NM_001202404.2:c.642C>T	NP_001189333.2:p.Val214=