Canonical Allele Identifier: CA360722608

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887716G>C (hg19) ; chr5:g.126552024G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552024G>C , CM000667.2:g.126552024G>C	GRCh38
NC_000005.9:g.125887716G>C , CM000667.1:g.125887716G>C	GRCh37
NC_000005.8:g.125915615G>C	NCBI36
NG_008600.2:g.48367C>G
NG_008600.3:g.48367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1314C>G MANE Select	ENSP00000387123.3:p.Phe438Leu
ENST00000458249.6:c.*1223C>G	ENSP00000403929.1:n.*1223C>G
ENST00000497231.7:n.1741C>G
ENST00000503281.6:c.903C>G
ENST00000635851.1:c.1312C>G
ENST00000636062.1:n.1209C>G
ENST00000636225.1:c.*1258C>G	ENSP00000490797.1:n.*1258C>G
ENST00000636286.1:n.1032C>G
ENST00000636482.1:n.801C>G
ENST00000636743.1:c.1194C>G	ENSP00000489725.1:p.Phe398Leu
ENST00000636808.1:c.*1123C>G	ENSP00000490833.1:n.*1123C>G
ENST00000636872.1:c.1474C>G	ENSP00000490919.1:n.1474C>G
ENST00000636879.1:c.1359C>G	ENSP00000490811.1:p.Phe453Leu
ENST00000636886.1:c.1113C>G	ENSP00000490371.1:p.Phe371Leu
ENST00000637206.1:c.1134C>G	ENSP00000489895.1:p.Phe378Leu
ENST00000637272.1:c.1305C>G	ENSP00000489686.1:p.Phe435Leu
ENST00000637292.1:c.774-1731C>G
ENST00000637782.1:c.1314C>G	ENSP00000490024.1:p.Phe438Leu
ENST00000638008.1:c.*1158C>G	ENSP00000490400.1:n.*1158C>G
ENST00000638010.1:n.1260C>G
ENST00000409134.7:c.1314C>G	ENSP00000387123.3:p.Phe438Leu
ENST00000447989.6:c.1203C>G	ENSP00000414132.2:p.Phe401Leu
ENST00000476328.1:n.79C>G
ENST00000497231.6:n.1524C>G
ENST00000503281.5:c.903C>G
ENST00000553117.5:c.1122C>G	ENSP00000448593.1:p.Phe374Leu
NM_001182.4:c.1314C>G	NP_001173.2:p.Phe438Leu
NM_001201377.1:c.1230C>G	NP_001188306.1:p.Phe410Leu
NM_001202404.1:c.1203C>G	NP_001189333.1:p.Phe401Leu
XM_011543417.1:c.909C>G	XP_011541719.1:p.Phe303Leu
XM_011543417.2:c.909C>G	XP_011541719.1:p.Phe303Leu
NM_001182.5:c.1314C>G MANE Select	NP_001173.2:p.Phe438Leu
NM_001201377.2:c.1230C>G	NP_001188306.1:p.Phe410Leu
NM_001202404.2:c.1122C>G	NP_001189333.2:p.Phe374Leu