Canonical Allele Identifier: CA446280190

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882018A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546326A>G , CM000667.2:g.126546326A>G	GRCh38
NC_000005.9:g.125882018A>G , CM000667.1:g.125882018A>G	GRCh37
NC_000005.8:g.125909917A>G	NCBI36
NG_008600.2:g.54065T>C
NG_008600.3:g.54065T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1563T>C MANE Select	ENSP00000387123.3:p.Thr521=
ENST00000458249.6:c.*1472T>C	ENSP00000403929.1:n.*1472T>C
ENST00000485852.7:n.310T>C
ENST00000497231.7:n.1990T>C
ENST00000635851.1:c.1561T>C
ENST00000636286.1:n.1328T>C
ENST00000636482.1:n.1097T>C
ENST00000636743.1:c.1443T>C	ENSP00000489725.1:p.Thr481=
ENST00000636808.1:c.*1372T>C	ENSP00000490833.1:n.*1372T>C
ENST00000636872.1:c.1723T>C	ENSP00000490919.1:n.1723T>C
ENST00000636879.1:c.1608T>C	ENSP00000490811.1:p.Thr536=
ENST00000636886.1:c.1362T>C	ENSP00000490371.1:p.Thr454=
ENST00000637206.1:c.1383T>C	ENSP00000489895.1:p.Thr461=
ENST00000637272.1:c.1554T>C	ENSP00000489686.1:p.Thr518=
ENST00000637292.1:c.1019T>C
ENST00000637782.1:c.1563T>C	ENSP00000490024.1:p.Thr521=
ENST00000638008.1:c.*1407T>C	ENSP00000490400.1:n.*1407T>C
ENST00000638010.1:n.1509T>C
ENST00000409134.7:c.1563T>C	ENSP00000387123.3:p.Thr521=
ENST00000447989.6:c.1452T>C	ENSP00000414132.2:p.Thr484=
ENST00000485852.6:n.310T>C
ENST00000497231.6:n.1773T>C
ENST00000553117.5:c.1371T>C	ENSP00000448593.1:p.Thr457=
NM_001182.4:c.1563T>C	NP_001173.2:p.Thr521=
NM_001201377.1:c.1479T>C	NP_001188306.1:p.Thr493=
NM_001202404.1:c.1452T>C	NP_001189333.1:p.Thr484=
XM_011543417.1:c.1158T>C	XP_011541719.1:p.Thr386=
XM_011543417.2:c.1158T>C	XP_011541719.1:p.Thr386=
NM_001182.5:c.1563T>C MANE Select	NP_001173.2:p.Thr521=
NM_001201377.2:c.1479T>C	NP_001188306.1:p.Thr493=
NM_001202404.2:c.1371T>C	NP_001189333.2:p.Thr457=