Canonical Allele Identifier: CA1580440983

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546343A= , CM000667.2:g.126546343A=	GRCh38
NC_000005.9:g.125882035A= , CM000667.1:g.125882035A=	GRCh37
NC_000005.8:g.125909934A=	NCBI36
NG_008600.2:g.54048T=
NG_008600.3:g.54048T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1546T= MANE Select	ENSP00000387123.3:p.Tyr516=
ENST00000458249.6:c.*1455T=	ENSP00000403929.1:n.*1455T=
ENST00000485852.7:n.293T=
ENST00000497231.7:n.1973T=
ENST00000635851.1:c.1544T=
ENST00000636286.1:n.1311T=
ENST00000636482.1:n.1080T=
ENST00000636743.1:c.1426T=	ENSP00000489725.1:p.Tyr476=
ENST00000636808.1:c.*1355T=	ENSP00000490833.1:n.*1355T=
ENST00000636872.1:c.1706T=	ENSP00000490919.1:n.1706T=
ENST00000636879.1:c.1591T=	ENSP00000490811.1:p.Tyr531=
ENST00000636886.1:c.1345T=	ENSP00000490371.1:p.Tyr449=
ENST00000637206.1:c.1366T=	ENSP00000489895.1:p.Tyr456=
ENST00000637272.1:c.1537T=	ENSP00000489686.1:p.Tyr513=
ENST00000637292.1:c.1002T=
ENST00000637782.1:c.1546T=	ENSP00000490024.1:p.Tyr516=
ENST00000638008.1:c.*1390T=	ENSP00000490400.1:n.*1390T=
ENST00000638010.1:n.1492T=
ENST00000409134.7:c.1546T=	ENSP00000387123.3:p.Tyr516=
ENST00000447989.6:c.1435T=	ENSP00000414132.2:p.Tyr479=
ENST00000485852.6:n.293T=
ENST00000497231.6:n.1756T=
ENST00000553117.5:c.1354T=	ENSP00000448593.1:p.Tyr452=
NM_001182.4:c.1546T=	NP_001173.2:p.Tyr516=
NM_001201377.1:c.1462T=	NP_001188306.1:p.Tyr488=
NM_001202404.1:c.1435T=	NP_001189333.1:p.Tyr479=
XM_011543417.1:c.1141T=	XP_011541719.1:p.Tyr381=
XM_011543417.2:c.1141T=	XP_011541719.1:p.Tyr381=
NM_001182.5:c.1546T= MANE Select	NP_001173.2:p.Tyr516=
NM_001201377.2:c.1462T=	NP_001188306.1:p.Tyr488=
NM_001202404.2:c.1354T=	NP_001189333.2:p.Tyr452=