Canonical Allele Identifier: CA360721368

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126550203A>C , CM000667.2:g.126550203A>C	GRCh38
NC_000005.9:g.125885895A>C , CM000667.1:g.125885895A>C	GRCh37
NC_000005.8:g.125913794A>C	NCBI36
NG_008600.2:g.50188T>G
NG_008600.3:g.50188T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1408T>G MANE Select	NP_001173.2:p.Trp470Gly
ENST00000409134.8:c.1408T>G MANE Select	ENSP00000387123.3:p.Trp470Gly
NM_001182.4:c.1408T>G	NP_001173.2:p.Trp470Gly
NM_001201377.1:c.1324T>G	NP_001188306.1:p.Trp442Gly
NM_001201377.2:c.1324T>G	NP_001188306.1:p.Trp442Gly
NM_001202404.1:c.1297T>G	NP_001189333.1:p.Trp433Gly
NM_001202404.2:c.1216T>G	NP_001189333.2:p.Trp406Gly
ENST00000409134.7:c.1408T>G	ENSP00000387123.3:p.Trp470Gly
ENST00000447989.6:c.1297T>G	ENSP00000414132.2:p.Trp433Gly
ENST00000458249.6:c.*1317T>G	ENSP00000403929.1:n.*1317T>G
ENST00000476328.1:n.173T>G
ENST00000497231.6:n.1618T>G
ENST00000497231.7:n.1835T>G
ENST00000553117.5:c.1216T>G	ENSP00000448593.1:p.Trp406Gly
ENST00000635851.1:c.1406T>G
ENST00000636062.1:n.1303T>G
ENST00000636225.1:c.*1352T>G	ENSP00000490797.1:n.*1352T>G
ENST00000636286.1:n.1126T>G
ENST00000636482.1:n.895T>G
ENST00000636743.1:c.1288T>G	ENSP00000489725.1:p.Trp430Gly
ENST00000636808.1:c.*1217T>G	ENSP00000490833.1:n.*1217T>G
ENST00000636872.1:c.1568T>G	ENSP00000490919.1:n.1568T>G
ENST00000636879.1:c.1453T>G	ENSP00000490811.1:p.Trp485Gly
ENST00000636886.1:c.1207T>G	ENSP00000490371.1:p.Trp403Gly
ENST00000637206.1:c.1228T>G	ENSP00000489895.1:p.Trp410Gly
ENST00000637272.1:c.1399T>G	ENSP00000489686.1:p.Trp467Gly
ENST00000637292.1:c.864T>G
ENST00000637782.1:c.1408T>G	ENSP00000490024.1:p.Trp470Gly
ENST00000638008.1:c.*1252T>G	ENSP00000490400.1:n.*1252T>G
ENST00000638010.1:n.1354T>G
XM_011543417.1:c.1003T>G	XP_011541719.1:p.Trp335Gly
XM_011543417.2:c.1003T>G	XP_011541719.1:p.Trp335Gly