Canonical Allele Identifier: CA360726651

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559266G>A , CM000667.2:g.126559266G>A	GRCh38
NC_000005.9:g.125894958G>A , CM000667.1:g.125894958G>A	GRCh37
NC_000005.8:g.125922857G>A	NCBI36
NG_008600.2:g.41125C>T
NG_008600.3:g.41125C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.982C>T MANE Select	NP_001173.2:p.Gln328Ter
ENST00000409134.8:c.982C>T MANE Select	ENSP00000387123.3:p.Gln328Ter
NM_001182.4:c.982C>T	NP_001173.2:p.Gln328Ter
NM_001201377.1:c.898C>T	NP_001188306.1:p.Gln300Ter
NM_001201377.2:c.898C>T	NP_001188306.1:p.Gln300Ter
NM_001202404.1:c.1063C>T	NP_001189333.1:p.Gln355Ter
NM_001202404.2:c.982C>T	NP_001189333.2:p.Gln328Ter
ENST00000409134.7:c.982C>T	ENSP00000387123.3:p.Gln328Ter
ENST00000447989.6:c.1063C>T	ENSP00000414132.2:p.Gln355Ter
ENST00000458249.6:c.*891C>T	ENSP00000403929.1:n.*891C>T
ENST00000497231.6:n.1192C>T
ENST00000497231.7:n.1409C>T
ENST00000503281.5:c.571C>T
ENST00000503281.6:c.571C>T
ENST00000509459.5:c.491C>T
ENST00000509459.6:c.491C>T
ENST00000553117.5:c.982C>T	ENSP00000448593.1:p.Gln328Ter
ENST00000635851.1:c.980C>T
ENST00000636062.1:n.877C>T
ENST00000636225.1:c.*926C>T	ENSP00000490797.1:n.*926C>T
ENST00000636286.1:n.700C>T
ENST00000636482.1:n.469C>T
ENST00000636743.1:c.862C>T	ENSP00000489725.1:p.Gln288Ter
ENST00000636808.1:c.*791C>T	ENSP00000490833.1:n.*791C>T
ENST00000636872.1:c.1142C>T	ENSP00000490919.1:n.1142C>T
ENST00000636879.1:c.1027C>T	ENSP00000490811.1:p.Gln343Ter
ENST00000636886.1:c.781C>T	ENSP00000490371.1:p.Gln261Ter
ENST00000637206.1:c.913+1817C>T	ENSP00000489895.1:n.913+1817C>T
ENST00000637272.1:c.973C>T	ENSP00000489686.1:p.Gln325Ter
ENST00000637292.1:c.555C>T
ENST00000637782.1:c.982C>T	ENSP00000490024.1:p.Gln328Ter
ENST00000637964.1:c.928C>T	ENSP00000490291.1:p.Gln310Ter
ENST00000638008.1:c.*826C>T	ENSP00000490400.1:n.*826C>T
XM_011543417.1:c.577C>T	XP_011541719.1:p.Gln193Ter
XM_011543417.2:c.577C>T	XP_011541719.1:p.Gln193Ter