Canonical Allele Identifier: CA360717634

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880676T>G (hg19) ; chr5:g.126544984T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544984T>G , CM000667.2:g.126544984T>G	GRCh38
NC_000005.9:g.125880676T>G , CM000667.1:g.125880676T>G	GRCh37
NC_000005.8:g.125908575T>G	NCBI36
NG_008600.2:g.55407A>C
NG_008600.3:g.55407A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1601A>C MANE Select	ENSP00000387123.3:p.Gln534Pro
ENST00000458249.6:c.*1510A>C	ENSP00000403929.1:n.*1510A>C
ENST00000485852.7:n.348A>C
ENST00000497231.7:n.2028A>C
ENST00000635851.1:c.1563+1340A>C
ENST00000636286.1:n.1366A>C
ENST00000636482.1:n.1135A>C
ENST00000636743.1:c.1481A>C	ENSP00000489725.1:p.Gln494Pro
ENST00000636808.1:c.*1410A>C	ENSP00000490833.1:n.*1410A>C
ENST00000636872.1:c.1761A>C	ENSP00000490919.1:n.1761A>C
ENST00000636879.1:c.1646A>C	ENSP00000490811.1:p.Gln549Pro
ENST00000636886.1:c.1400A>C	ENSP00000490371.1:p.Gln467Pro
ENST00000637206.1:c.1421A>C	ENSP00000489895.1:p.Gln474Pro
ENST00000637272.1:c.1592A>C	ENSP00000489686.1:p.Gln531Pro
ENST00000637292.1:c.1057A>C
ENST00000637782.1:c.1565+1340A>C	ENSP00000490024.1:n.1565+1340A>C
ENST00000638008.1:c.*1445A>C	ENSP00000490400.1:n.*1445A>C
ENST00000638010.1:n.1547A>C
ENST00000409134.7:c.1601A>C	ENSP00000387123.3:p.Gln534Pro
ENST00000447989.6:c.1490A>C	ENSP00000414132.2:p.Gln497Pro
ENST00000485852.6:n.348A>C
ENST00000497231.6:n.1811A>C
ENST00000553117.5:c.1409A>C	ENSP00000448593.1:p.Gln470Pro
NM_001182.4:c.1601A>C	NP_001173.2:p.Gln534Pro
NM_001201377.1:c.1517A>C	NP_001188306.1:p.Gln506Pro
NM_001202404.1:c.1490A>C	NP_001189333.1:p.Gln497Pro
XM_011543417.1:c.1196A>C	XP_011541719.1:p.Gln399Pro
XM_011543417.2:c.1196A>C	XP_011541719.1:p.Gln399Pro
NM_001182.5:c.1601A>C MANE Select	NP_001173.2:p.Gln534Pro
NM_001201377.2:c.1517A>C	NP_001188306.1:p.Gln506Pro
NM_001202404.2:c.1409A>C	NP_001189333.2:p.Gln470Pro