Canonical Allele Identifier: CA360733069

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125928363C>A (hg19) ; chr5:g.126592671C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592671C>A , CM000667.2:g.126592671C>A	GRCh38
NC_000005.9:g.125928363C>A , CM000667.1:g.125928363C>A	GRCh37
NC_000005.8:g.125956262C>A	NCBI36
NG_008600.2:g.7720G>T
NG_008600.3:g.7720G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.305G>T MANE Select	ENSP00000387123.3:p.Trp102Leu
ENST00000412186.2:c.305G>T	ENSP00000414536.2:p.Trp102Leu
ENST00000413020.6:c.305G>T	ENSP00000487936.1:p.Trp102Leu
ENST00000458249.6:c.*214G>T	ENSP00000403929.1:n.*214G>T
ENST00000479989.6:n.488G>T
ENST00000503281.6:c.106+2336G>T
ENST00000509270.2:c.246+680G>T	ENSP00000449318.2:n.246+680G>T
ENST00000509459.6:c.65+2336G>T
ENST00000511266.6:n.1027G>T
ENST00000635851.1:c.303G>T
ENST00000635858.1:n.144G>T
ENST00000635933.1:n.334G>T
ENST00000636062.1:n.200G>T
ENST00000636190.1:n.184G>T
ENST00000636225.1:c.*114G>T	ENSP00000490797.1:n.*114G>T
ENST00000636743.1:c.192+2336G>T	ENSP00000489725.1:n.192+2336G>T
ENST00000636808.1:c.*114G>T	ENSP00000490833.1:n.*114G>T
ENST00000636872.1:c.465G>T	ENSP00000490919.1:n.465G>T
ENST00000636879.1:c.305G>T	ENSP00000490811.1:p.Trp102Leu
ENST00000636886.1:c.192+2336G>T	ENSP00000490371.1:n.192+2336G>T
ENST00000637206.1:c.305G>T	ENSP00000489895.1:p.Trp102Leu
ENST00000637272.1:c.305G>T	ENSP00000489686.1:p.Trp102Leu
ENST00000637782.1:c.305G>T	ENSP00000490024.1:p.Trp102Leu
ENST00000637964.1:c.251G>T	ENSP00000490291.1:p.Trp84Leu
ENST00000638008.1:c.*114G>T	ENSP00000490400.1:n.*114G>T
ENST00000409134.7:c.305G>T	ENSP00000387123.3:p.Trp102Leu
ENST00000412186.1:c.*114G>T	ENSP00000414536.1:n.*114G>T
ENST00000413020.5:c.305G>T	ENSP00000487936.1:p.Trp102Leu
ENST00000447989.6:c.386G>T	ENSP00000414132.2:p.Trp129Leu
ENST00000458249.5:c.465G>T	ENSP00000403929.1:n.465G>T
ENST00000479989.5:n.488G>T
ENST00000503281.5:c.106+2336G>T
ENST00000509270.1:c.192+2336G>T	ENSP00000449318.1:n.192+2336G>T
ENST00000509459.5:c.65+2336G>T
ENST00000510111.6:c.299G>T	ENSP00000447388.1:p.Trp100Leu
ENST00000511266.5:n.260G>T
ENST00000553117.5:c.305G>T	ENSP00000448593.1:p.Trp102Leu
NM_001182.4:c.305G>T	NP_001173.2:p.Trp102Leu
NM_001201377.1:c.221G>T	NP_001188306.1:p.Trp74Leu
NM_001202404.1:c.386G>T	NP_001189333.1:p.Trp129Leu
XM_011543417.1:c.-101G>T	XP_011541719.1:n.-101G>T
XM_011543417.2:c.-101G>T	XP_011541719.1:n.-101G>T
NM_001182.5:c.305G>T MANE Select	NP_001173.2:p.Trp102Leu
NM_001201377.2:c.221G>T	NP_001188306.1:p.Trp74Leu
NM_001202404.2:c.305G>T	NP_001189333.2:p.Trp102Leu