Canonical Allele Identifier: CA360717950

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880707T>G (hg19) ; chr5:g.126545015T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545015T>G , CM000667.2:g.126545015T>G	GRCh38
NC_000005.9:g.125880707T>G , CM000667.1:g.125880707T>G	GRCh37
NC_000005.8:g.125908606T>G	NCBI36
NG_008600.2:g.55376A>C
NG_008600.3:g.55376A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1570A>C MANE Select	ENSP00000387123.3:p.Ile524Leu
ENST00000458249.6:c.*1479A>C	ENSP00000403929.1:n.*1479A>C
ENST00000485852.7:n.317A>C
ENST00000497231.7:n.1997A>C
ENST00000635851.1:c.1563+1309A>C
ENST00000636286.1:n.1335A>C
ENST00000636482.1:n.1104A>C
ENST00000636743.1:c.1450A>C	ENSP00000489725.1:p.Ile484Leu
ENST00000636808.1:c.*1379A>C	ENSP00000490833.1:n.*1379A>C
ENST00000636872.1:c.1730A>C	ENSP00000490919.1:n.1730A>C
ENST00000636879.1:c.1615A>C	ENSP00000490811.1:p.Ile539Leu
ENST00000636886.1:c.1369A>C	ENSP00000490371.1:p.Ile457Leu
ENST00000637206.1:c.1390A>C	ENSP00000489895.1:p.Ile464Leu
ENST00000637272.1:c.1561A>C	ENSP00000489686.1:p.Ile521Leu
ENST00000637292.1:c.1026A>C
ENST00000637782.1:c.1565+1309A>C	ENSP00000490024.1:n.1565+1309A>C
ENST00000638008.1:c.*1414A>C	ENSP00000490400.1:n.*1414A>C
ENST00000638010.1:n.1516A>C
ENST00000409134.7:c.1570A>C	ENSP00000387123.3:p.Ile524Leu
ENST00000447989.6:c.1459A>C	ENSP00000414132.2:p.Ile487Leu
ENST00000485852.6:n.317A>C
ENST00000497231.6:n.1780A>C
ENST00000553117.5:c.1378A>C	ENSP00000448593.1:p.Ile460Leu
NM_001182.4:c.1570A>C	NP_001173.2:p.Ile524Leu
NM_001201377.1:c.1486A>C	NP_001188306.1:p.Ile496Leu
NM_001202404.1:c.1459A>C	NP_001189333.1:p.Ile487Leu
XM_011543417.1:c.1165A>C	XP_011541719.1:p.Ile389Leu
XM_011543417.2:c.1165A>C	XP_011541719.1:p.Ile389Leu
NM_001182.5:c.1570A>C MANE Select	NP_001173.2:p.Ile524Leu
NM_001201377.2:c.1486A>C	NP_001188306.1:p.Ile496Leu
NM_001202404.2:c.1378A>C	NP_001189333.2:p.Ile460Leu