Canonical Allele Identifier: CA3389400

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126549941C>A , CM000667.2:g.126549941C>A	GRCh38
NC_000005.9:g.125885633C>A , CM000667.1:g.125885633C>A	GRCh37
NC_000005.8:g.125913532C>A	NCBI36
NG_008600.2:g.50450G>T
NG_008600.3:g.50450G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1477G>T MANE Select	NP_001173.2:p.Gly493Ter
ENST00000409134.8:c.1477G>T MANE Select	ENSP00000387123.3:p.Gly493Ter
NM_001182.4:c.1477G>T	NP_001173.2:p.Gly493Ter
NM_001201377.1:c.1393G>T	NP_001188306.1:p.Gly465Ter
NM_001201377.2:c.1393G>T	NP_001188306.1:p.Gly465Ter
NM_001202404.1:c.1366G>T	NP_001189333.1:p.Gly456Ter
NM_001202404.2:c.1285G>T	NP_001189333.2:p.Gly429Ter
ENST00000409134.7:c.1477G>T	ENSP00000387123.3:p.Gly493Ter
ENST00000447989.6:c.1366G>T	ENSP00000414132.2:p.Gly456Ter
ENST00000458249.6:c.*1386G>T	ENSP00000403929.1:n.*1386G>T
ENST00000476328.1:n.435G>T
ENST00000485852.6:n.224G>T
ENST00000485852.7:n.224G>T
ENST00000497231.6:n.1687G>T
ENST00000497231.7:n.1904G>T
ENST00000553117.5:c.1285G>T	ENSP00000448593.1:p.Gly429Ter
ENST00000635851.1:c.1475G>T
ENST00000636062.1:n.1372G>T
ENST00000636225.1:c.*1421G>T	ENSP00000490797.1:n.*1421G>T
ENST00000636286.1:n.1242G>T
ENST00000636482.1:n.1011G>T
ENST00000636743.1:c.1357G>T	ENSP00000489725.1:p.Gly453Ter
ENST00000636808.1:c.*1286G>T	ENSP00000490833.1:n.*1286G>T
ENST00000636872.1:c.1637G>T	ENSP00000490919.1:n.1637G>T
ENST00000636879.1:c.1522G>T	ENSP00000490811.1:p.Gly508Ter
ENST00000636886.1:c.1276G>T	ENSP00000490371.1:p.Gly426Ter
ENST00000637206.1:c.1297G>T	ENSP00000489895.1:p.Gly433Ter
ENST00000637272.1:c.1468G>T	ENSP00000489686.1:p.Gly490Ter
ENST00000637292.1:c.933G>T
ENST00000637782.1:c.1477G>T	ENSP00000490024.1:p.Gly493Ter
ENST00000638008.1:c.*1321G>T	ENSP00000490400.1:n.*1321G>T
ENST00000638010.1:n.1423G>T
XM_011543417.1:c.1072G>T	XP_011541719.1:p.Gly358Ter
XM_011543417.2:c.1072G>T	XP_011541719.1:p.Gly358Ter