Canonical Allele Identifier: CA360732136

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126584009G>T , CM000667.2:g.126584009G>T	GRCh38
NC_000005.9:g.125919701G>T , CM000667.1:g.125919701G>T	GRCh37
NC_000005.8:g.125947600G>T	NCBI36
NG_008600.2:g.16382C>A
NG_008600.3:g.16382C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.316C>A MANE Select	NP_001173.2:p.Pro106Thr
ENST00000409134.8:c.316C>A MANE Select	ENSP00000387123.3:p.Pro106Thr
NM_001182.4:c.316C>A	NP_001173.2:p.Pro106Thr
NM_001201377.1:c.232C>A	NP_001188306.1:p.Pro78Thr
NM_001201377.2:c.232C>A	NP_001188306.1:p.Pro78Thr
NM_001202404.1:c.397C>A	NP_001189333.1:p.Pro133Thr
NM_001202404.2:c.316C>A	NP_001189333.2:p.Pro106Thr
ENST00000409134.7:c.316C>A	ENSP00000387123.3:p.Pro106Thr
ENST00000412186.1:c.*125C>A	ENSP00000414536.1:n.*125C>A
ENST00000412186.2:c.316C>A	ENSP00000414536.2:p.Pro106Thr
ENST00000413020.5:c.316C>A	ENSP00000487936.1:p.Pro106Thr
ENST00000413020.6:c.316C>A	ENSP00000487936.1:p.Pro106Thr
ENST00000447989.6:c.397C>A	ENSP00000414132.2:p.Pro133Thr
ENST00000458249.5:c.476C>A	ENSP00000403929.1:n.476C>A
ENST00000458249.6:c.*225C>A	ENSP00000403929.1:n.*225C>A
ENST00000479989.5:n.499C>A
ENST00000479989.6:n.499C>A
ENST00000503281.5:c.107-6798C>A
ENST00000503281.6:c.107-6798C>A
ENST00000509270.1:c.196C>A	ENSP00000449318.1:p.Pro66Thr
ENST00000509270.2:c.250C>A	ENSP00000449318.2:p.Pro84Thr
ENST00000509459.5:c.66-6798C>A
ENST00000509459.6:c.66-6798C>A
ENST00000510111.6:c.307-1035C>A	ENSP00000447388.1:n.307-1035C>A
ENST00000511266.5:n.271C>A
ENST00000511266.6:n.1038C>A
ENST00000553117.5:c.316C>A	ENSP00000448593.1:p.Pro106Thr
ENST00000635851.1:c.314C>A
ENST00000636062.1:n.211C>A
ENST00000636190.1:n.195C>A
ENST00000636225.1:c.*125C>A	ENSP00000490797.1:n.*125C>A
ENST00000636286.1:n.34C>A
ENST00000636743.1:c.196C>A	ENSP00000489725.1:p.Pro66Thr
ENST00000636808.1:c.*125C>A	ENSP00000490833.1:n.*125C>A
ENST00000636872.1:c.476C>A	ENSP00000490919.1:n.476C>A
ENST00000636879.1:c.316C>A	ENSP00000490811.1:p.Pro106Thr
ENST00000636886.1:c.193-1035C>A	ENSP00000490371.1:n.193-1035C>A
ENST00000637206.1:c.316C>A	ENSP00000489895.1:p.Pro106Thr
ENST00000637272.1:c.316C>A	ENSP00000489686.1:p.Pro106Thr
ENST00000637782.1:c.316C>A	ENSP00000490024.1:p.Pro106Thr
ENST00000637964.1:c.262C>A	ENSP00000490291.1:p.Pro88Thr
ENST00000638008.1:c.*258C>A	ENSP00000490400.1:n.*258C>A
XM_011543417.1:c.-90C>A	XP_011541719.1:n.-90C>A
XM_011543417.2:c.-90C>A	XP_011541719.1:n.-90C>A