Canonical Allele Identifier: CA360719019

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882041T>C (hg19) ; chr5:g.126546349T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546349T>C , CM000667.2:g.126546349T>C	GRCh38
NC_000005.9:g.125882041T>C , CM000667.1:g.125882041T>C	GRCh37
NC_000005.8:g.125909940T>C	NCBI36
NG_008600.2:g.54042A>G
NG_008600.3:g.54042A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1540A>G MANE Select	ENSP00000387123.3:p.Lys514Glu
ENST00000458249.6:c.*1449A>G	ENSP00000403929.1:n.*1449A>G
ENST00000485852.7:n.287A>G
ENST00000497231.7:n.1967A>G
ENST00000635851.1:c.1538A>G
ENST00000636225.1:c.*1484A>G	ENSP00000490797.1:n.*1484A>G
ENST00000636286.1:n.1305A>G
ENST00000636482.1:n.1074A>G
ENST00000636743.1:c.1420A>G	ENSP00000489725.1:p.Lys474Glu
ENST00000636808.1:c.*1349A>G	ENSP00000490833.1:n.*1349A>G
ENST00000636872.1:c.1700A>G	ENSP00000490919.1:n.1700A>G
ENST00000636879.1:c.1585A>G	ENSP00000490811.1:p.Lys529Glu
ENST00000636886.1:c.1339A>G	ENSP00000490371.1:p.Lys447Glu
ENST00000637206.1:c.1360A>G	ENSP00000489895.1:p.Lys454Glu
ENST00000637272.1:c.1531A>G	ENSP00000489686.1:p.Lys511Glu
ENST00000637292.1:c.996A>G
ENST00000637782.1:c.1540A>G	ENSP00000490024.1:p.Lys514Glu
ENST00000638008.1:c.*1384A>G	ENSP00000490400.1:n.*1384A>G
ENST00000638010.1:n.1486A>G
ENST00000409134.7:c.1540A>G	ENSP00000387123.3:p.Lys514Glu
ENST00000447989.6:c.1429A>G	ENSP00000414132.2:p.Lys477Glu
ENST00000485852.6:n.287A>G
ENST00000497231.6:n.1750A>G
ENST00000553117.5:c.1348A>G	ENSP00000448593.1:p.Lys450Glu
NM_001182.4:c.1540A>G	NP_001173.2:p.Lys514Glu
NM_001201377.1:c.1456A>G	NP_001188306.1:p.Lys486Glu
NM_001202404.1:c.1429A>G	NP_001189333.1:p.Lys477Glu
XM_011543417.1:c.1135A>G	XP_011541719.1:p.Lys379Glu
XM_011543417.2:c.1135A>G	XP_011541719.1:p.Lys379Glu
NM_001182.5:c.1540A>G MANE Select	NP_001173.2:p.Lys514Glu
NM_001201377.2:c.1456A>G	NP_001188306.1:p.Lys486Glu
NM_001202404.2:c.1348A>G	NP_001189333.2:p.Lys450Glu