Canonical Allele Identifier: CA16618099

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 420896
• ClinVar RCV Id: RCV000479462 ; RCV002525855
• dbSNP Id: rs1064794774
• MyVariant Identifiers: chr5:g.125882030C>T (hg19) ; chr5:g.126546338C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546338C>T , CM000667.2:g.126546338C>T	GRCh38
NC_000005.9:g.125882030C>T , CM000667.1:g.125882030C>T	GRCh37
NC_000005.8:g.125909929C>T	NCBI36
NG_008600.2:g.54053G>A
NG_008600.3:g.54053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1551G>A MANE Select	ENSP00000387123.3:p.Met517Ile
ENST00000458249.6:c.*1460G>A	ENSP00000403929.1:n.*1460G>A
ENST00000485852.7:n.298G>A
ENST00000497231.7:n.1978G>A
ENST00000635851.1:c.1549G>A
ENST00000636286.1:n.1316G>A
ENST00000636482.1:n.1085G>A
ENST00000636743.1:c.1431G>A	ENSP00000489725.1:p.Met477Ile
ENST00000636808.1:c.*1360G>A	ENSP00000490833.1:n.*1360G>A
ENST00000636872.1:c.1711G>A	ENSP00000490919.1:n.1711G>A
ENST00000636879.1:c.1596G>A	ENSP00000490811.1:p.Met532Ile
ENST00000636886.1:c.1350G>A	ENSP00000490371.1:p.Met450Ile
ENST00000637206.1:c.1371G>A	ENSP00000489895.1:p.Met457Ile
ENST00000637272.1:c.1542G>A	ENSP00000489686.1:p.Met514Ile
ENST00000637292.1:c.1007G>A
ENST00000637782.1:c.1551G>A	ENSP00000490024.1:p.Met517Ile
ENST00000638008.1:c.*1395G>A	ENSP00000490400.1:n.*1395G>A
ENST00000638010.1:n.1497G>A
ENST00000409134.7:c.1551G>A	ENSP00000387123.3:p.Met517Ile
ENST00000447989.6:c.1440G>A	ENSP00000414132.2:p.Met480Ile
ENST00000485852.6:n.298G>A
ENST00000497231.6:n.1761G>A
ENST00000553117.5:c.1359G>A	ENSP00000448593.1:p.Met453Ile
NM_001182.4:c.1551G>A	NP_001173.2:p.Met517Ile
NM_001201377.1:c.1467G>A	NP_001188306.1:p.Met489Ile
NM_001202404.1:c.1440G>A	NP_001189333.1:p.Met480Ile
XM_011543417.1:c.1146G>A	XP_011541719.1:p.Met382Ile
XM_011543417.2:c.1146G>A	XP_011541719.1:p.Met382Ile
NM_001182.5:c.1551G>A MANE Select	NP_001173.2:p.Met517Ile
NM_001201377.2:c.1467G>A	NP_001188306.1:p.Met489Ile
NM_001202404.2:c.1359G>A	NP_001189333.2:p.Met453Ile