Canonical Allele Identifier: CA360730941

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912775G>T (hg19) ; chr5:g.126577083G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577083G>T , CM000667.2:g.126577083G>T	GRCh38
NC_000005.9:g.125912775G>T , CM000667.1:g.125912775G>T	GRCh37
NC_000005.8:g.125940674G>T	NCBI36
NG_008600.2:g.23308C>A
NG_008600.3:g.23308C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.646C>A MANE Select	ENSP00000387123.3:p.Leu216Ile
ENST00000412186.2:c.522C>A	ENSP00000414536.2:n.522C>A
ENST00000413020.6:c.646C>A	ENSP00000487936.1:p.Leu216Ile
ENST00000458249.6:c.*555C>A	ENSP00000403929.1:n.*555C>A
ENST00000503281.6:c.235C>A
ENST00000509270.2:c.580C>A
ENST00000509459.6:c.194C>A
ENST00000511266.6:n.1368C>A
ENST00000635851.1:c.644C>A
ENST00000636062.1:n.541C>A
ENST00000636225.1:c.*455C>A	ENSP00000490797.1:n.*455C>A
ENST00000636286.1:n.364C>A
ENST00000636743.1:c.526C>A	ENSP00000489725.1:p.Leu176Ile
ENST00000636808.1:c.*455C>A	ENSP00000490833.1:n.*455C>A
ENST00000636872.1:c.806C>A	ENSP00000490919.1:n.806C>A
ENST00000636879.1:c.691C>A	ENSP00000490811.1:p.Leu231Ile
ENST00000636886.1:c.445C>A	ENSP00000490371.1:p.Leu149Ile
ENST00000637206.1:c.646C>A	ENSP00000489895.1:p.Leu216Ile
ENST00000637272.1:c.646C>A	ENSP00000489686.1:p.Leu216Ile
ENST00000637292.1:c.299C>A
ENST00000637782.1:c.646C>A	ENSP00000490024.1:p.Leu216Ile
ENST00000637964.1:c.592C>A	ENSP00000490291.1:p.Leu198Ile
ENST00000638008.1:c.*588C>A	ENSP00000490400.1:n.*588C>A
ENST00000409134.7:c.646C>A	ENSP00000387123.3:p.Leu216Ile
ENST00000413020.5:c.646C>A	ENSP00000487936.1:p.Leu216Ile
ENST00000433026.5:n.173C>A
ENST00000447989.6:c.727C>A	ENSP00000414132.2:p.Leu243Ile
ENST00000458249.5:c.806C>A	ENSP00000403929.1:n.806C>A
ENST00000503281.5:c.235C>A
ENST00000509459.5:c.194C>A
ENST00000510111.6:c.559C>A	ENSP00000447388.1:p.Leu187Ile
ENST00000511266.5:n.477C>A
ENST00000553117.5:c.646C>A	ENSP00000448593.1:p.Leu216Ile
NM_001182.4:c.646C>A	NP_001173.2:p.Leu216Ile
NM_001201377.1:c.562C>A	NP_001188306.1:p.Leu188Ile
NM_001202404.1:c.727C>A	NP_001189333.1:p.Leu243Ile
XM_011543417.1:c.241C>A	XP_011541719.1:p.Leu81Ile
XM_011543417.2:c.241C>A	XP_011541719.1:p.Leu81Ile
NM_001182.5:c.646C>A MANE Select	NP_001173.2:p.Leu216Ile
NM_001201377.2:c.562C>A	NP_001188306.1:p.Leu188Ile
NM_001202404.2:c.646C>A	NP_001189333.2:p.Leu216Ile