Canonical Allele Identifier: CA446280122

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126544989-C-G
• MyVariant Identifiers: chr5:g.125880681C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544989C>G , CM000667.2:g.126544989C>G	GRCh38
NC_000005.9:g.125880681C>G , CM000667.1:g.125880681C>G	GRCh37
NC_000005.8:g.125908580C>G	NCBI36
NG_008600.2:g.55402G>C
NG_008600.3:g.55402G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1596G>C MANE Select	ENSP00000387123.3:p.Leu532=
ENST00000458249.6:c.*1505G>C	ENSP00000403929.1:n.*1505G>C
ENST00000485852.7:n.343G>C
ENST00000497231.7:n.2023G>C
ENST00000635851.1:c.1563+1335G>C
ENST00000636286.1:n.1361G>C
ENST00000636482.1:n.1130G>C
ENST00000636743.1:c.1476G>C	ENSP00000489725.1:p.Leu492=
ENST00000636808.1:c.*1405G>C	ENSP00000490833.1:n.*1405G>C
ENST00000636872.1:c.1756G>C	ENSP00000490919.1:n.1756G>C
ENST00000636879.1:c.1641G>C	ENSP00000490811.1:p.Leu547=
ENST00000636886.1:c.1395G>C	ENSP00000490371.1:p.Leu465=
ENST00000637206.1:c.1416G>C	ENSP00000489895.1:p.Leu472=
ENST00000637272.1:c.1587G>C	ENSP00000489686.1:p.Leu529=
ENST00000637292.1:c.1052G>C
ENST00000637782.1:c.1565+1335G>C	ENSP00000490024.1:n.1565+1335G>C
ENST00000638008.1:c.*1440G>C	ENSP00000490400.1:n.*1440G>C
ENST00000638010.1:n.1542G>C
ENST00000409134.7:c.1596G>C	ENSP00000387123.3:p.Leu532=
ENST00000447989.6:c.1485G>C	ENSP00000414132.2:p.Leu495=
ENST00000485852.6:n.343G>C
ENST00000497231.6:n.1806G>C
ENST00000553117.5:c.1404G>C	ENSP00000448593.1:p.Leu468=
NM_001182.4:c.1596G>C	NP_001173.2:p.Leu532=
NM_001201377.1:c.1512G>C	NP_001188306.1:p.Leu504=
NM_001202404.1:c.1485G>C	NP_001189333.1:p.Leu495=
XM_011543417.1:c.1191G>C	XP_011541719.1:p.Leu397=
XM_011543417.2:c.1191G>C	XP_011541719.1:p.Leu397=
NM_001182.5:c.1596G>C MANE Select	NP_001173.2:p.Leu532=
NM_001201377.2:c.1512G>C	NP_001188306.1:p.Leu504=
NM_001202404.2:c.1404G>C	NP_001189333.2:p.Leu468=