Canonical Allele Identifier: CA360729209

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125903966C>T (hg19) ; chr5:g.126568274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126568274C>T , CM000667.2:g.126568274C>T	GRCh38
NC_000005.9:g.125903966C>T , CM000667.1:g.125903966C>T	GRCh37
NC_000005.8:g.125931865C>T	NCBI36
NG_008600.2:g.32117G>A
NG_008600.3:g.32117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.856G>A MANE Select	ENSP00000387123.3:p.Val286Met
ENST00000413020.6:c.856G>A	ENSP00000487936.1:p.Val286Met
ENST00000458249.6:c.*765G>A	ENSP00000403929.1:n.*765G>A
ENST00000503281.6:c.445G>A
ENST00000509459.6:c.404G>A
ENST00000511266.6:n.1578G>A
ENST00000635851.1:c.854G>A
ENST00000636062.1:n.751G>A
ENST00000636225.1:c.*665G>A	ENSP00000490797.1:n.*665G>A
ENST00000636286.1:n.574G>A
ENST00000636743.1:c.736G>A	ENSP00000489725.1:p.Val246Met
ENST00000636808.1:c.*665G>A	ENSP00000490833.1:n.*665G>A
ENST00000636872.1:c.1016G>A	ENSP00000490919.1:n.1016G>A
ENST00000636879.1:c.901G>A	ENSP00000490811.1:p.Val301Met
ENST00000636886.1:c.655G>A	ENSP00000490371.1:p.Val219Met
ENST00000636892.1:n.2864G>A
ENST00000637206.1:c.856G>A	ENSP00000489895.1:p.Val286Met
ENST00000637272.1:c.856G>A	ENSP00000489686.1:p.Val286Met
ENST00000637292.1:c.426+2508G>A
ENST00000637782.1:c.856G>A	ENSP00000490024.1:p.Val286Met
ENST00000637964.1:c.802G>A	ENSP00000490291.1:p.Val268Met
ENST00000638008.1:c.*715+2508G>A	ENSP00000490400.1:n.*715+2508G>A
ENST00000409134.7:c.856G>A	ENSP00000387123.3:p.Val286Met
ENST00000413020.5:c.856G>A	ENSP00000487936.1:p.Val286Met
ENST00000433026.5:n.383G>A
ENST00000447989.6:c.937G>A	ENSP00000414132.2:p.Val313Met
ENST00000458249.5:c.1016G>A	ENSP00000403929.1:n.1016G>A
ENST00000503281.5:c.445G>A
ENST00000509459.5:c.404G>A
ENST00000553117.5:c.856G>A	ENSP00000448593.1:p.Val286Met
NM_001182.4:c.856G>A	NP_001173.2:p.Val286Met
NM_001201377.1:c.772G>A	NP_001188306.1:p.Val258Met
NM_001202404.1:c.937G>A	NP_001189333.1:p.Val313Met
XM_011543417.1:c.451G>A	XP_011541719.1:p.Val151Met
XM_011543417.2:c.451G>A	XP_011541719.1:p.Val151Met
NM_001182.5:c.856G>A MANE Select	NP_001173.2:p.Val286Met
NM_001201377.2:c.772G>A	NP_001188306.1:p.Val258Met
NM_001202404.2:c.856G>A	NP_001189333.2:p.Val286Met