Canonical Allele Identifier: CA446280540

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 1055929
• ClinVar RCV Id: RCV001364680
• dbSNP Id: rs2112755832
• MyVariant Identifiers: chr5:g.125887719T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552027T>C , CM000667.2:g.126552027T>C	GRCh38
NC_000005.9:g.125887719T>C , CM000667.1:g.125887719T>C	GRCh37
NC_000005.8:g.125915618T>C	NCBI36
NG_008600.2:g.48364A>G
NG_008600.3:g.48364A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1311A>G MANE Select	ENSP00000387123.3:p.Lys437=
ENST00000458249.6:c.*1220A>G	ENSP00000403929.1:n.*1220A>G
ENST00000497231.7:n.1738A>G
ENST00000503281.6:c.900A>G
ENST00000635851.1:c.1309A>G
ENST00000636062.1:n.1206A>G
ENST00000636225.1:c.*1255A>G	ENSP00000490797.1:n.*1255A>G
ENST00000636286.1:n.1029A>G
ENST00000636482.1:n.798A>G
ENST00000636743.1:c.1191A>G	ENSP00000489725.1:p.Lys397=
ENST00000636808.1:c.*1120A>G	ENSP00000490833.1:n.*1120A>G
ENST00000636872.1:c.1471A>G	ENSP00000490919.1:n.1471A>G
ENST00000636879.1:c.1356A>G	ENSP00000490811.1:p.Lys452=
ENST00000636886.1:c.1110A>G	ENSP00000490371.1:p.Lys370=
ENST00000637206.1:c.1131A>G	ENSP00000489895.1:p.Lys377=
ENST00000637272.1:c.1302A>G	ENSP00000489686.1:p.Lys434=
ENST00000637292.1:c.774-1734A>G
ENST00000637782.1:c.1311A>G	ENSP00000490024.1:p.Lys437=
ENST00000638008.1:c.*1155A>G	ENSP00000490400.1:n.*1155A>G
ENST00000638010.1:n.1257A>G
ENST00000409134.7:c.1311A>G	ENSP00000387123.3:p.Lys437=
ENST00000447989.6:c.1200A>G	ENSP00000414132.2:p.Lys400=
ENST00000476328.1:n.76A>G
ENST00000497231.6:n.1521A>G
ENST00000503281.5:c.900A>G
ENST00000553117.5:c.1119A>G	ENSP00000448593.1:p.Lys373=
NM_001182.4:c.1311A>G	NP_001173.2:p.Lys437=
NM_001201377.1:c.1227A>G	NP_001188306.1:p.Lys409=
NM_001202404.1:c.1200A>G	NP_001189333.1:p.Lys400=
XM_011543417.1:c.906A>G	XP_011541719.1:p.Lys302=
XM_011543417.2:c.906A>G	XP_011541719.1:p.Lys302=
NM_001182.5:c.1311A>G MANE Select	NP_001173.2:p.Lys437=
NM_001201377.2:c.1227A>G	NP_001188306.1:p.Lys409=
NM_001202404.2:c.1119A>G	NP_001189333.2:p.Lys373=