Canonical Allele Identifier: CA360722960

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887745A>G (hg19) ; chr5:g.126552053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552053A>G , CM000667.2:g.126552053A>G	GRCh38
NC_000005.9:g.125887745A>G , CM000667.1:g.125887745A>G	GRCh37
NC_000005.8:g.125915644A>G	NCBI36
NG_008600.2:g.48338T>C
NG_008600.3:g.48338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1285T>C MANE Select	ENSP00000387123.3:p.Phe429Leu
ENST00000458249.6:c.*1194T>C	ENSP00000403929.1:n.*1194T>C
ENST00000497231.7:n.1712T>C
ENST00000503281.6:c.874T>C
ENST00000635851.1:c.1283T>C
ENST00000636062.1:n.1180T>C
ENST00000636225.1:c.*1229T>C	ENSP00000490797.1:n.*1229T>C
ENST00000636286.1:n.1003T>C
ENST00000636482.1:n.772T>C
ENST00000636743.1:c.1165T>C	ENSP00000489725.1:p.Phe389Leu
ENST00000636808.1:c.*1094T>C	ENSP00000490833.1:n.*1094T>C
ENST00000636872.1:c.1445T>C	ENSP00000490919.1:n.1445T>C
ENST00000636879.1:c.1330T>C	ENSP00000490811.1:p.Phe444Leu
ENST00000636886.1:c.1084T>C	ENSP00000490371.1:p.Phe362Leu
ENST00000637206.1:c.1105T>C	ENSP00000489895.1:p.Phe369Leu
ENST00000637272.1:c.1276T>C	ENSP00000489686.1:p.Phe426Leu
ENST00000637292.1:c.774-1760T>C
ENST00000637782.1:c.1285T>C	ENSP00000490024.1:p.Phe429Leu
ENST00000638008.1:c.*1129T>C	ENSP00000490400.1:n.*1129T>C
ENST00000638010.1:n.1231T>C
ENST00000409134.7:c.1285T>C	ENSP00000387123.3:p.Phe429Leu
ENST00000447989.6:c.1174T>C	ENSP00000414132.2:p.Phe392Leu
ENST00000476328.1:n.50T>C
ENST00000497231.6:n.1495T>C
ENST00000503281.5:c.874T>C
ENST00000553117.5:c.1093T>C	ENSP00000448593.1:p.Phe365Leu
NM_001182.4:c.1285T>C	NP_001173.2:p.Phe429Leu
NM_001201377.1:c.1201T>C	NP_001188306.1:p.Phe401Leu
NM_001202404.1:c.1174T>C	NP_001189333.1:p.Phe392Leu
XM_011543417.1:c.880T>C	XP_011541719.1:p.Phe294Leu
XM_011543417.2:c.880T>C	XP_011541719.1:p.Phe294Leu
NM_001182.5:c.1285T>C MANE Select	NP_001173.2:p.Phe429Leu
NM_001201377.2:c.1201T>C	NP_001188306.1:p.Phe401Leu
NM_001202404.2:c.1093T>C	NP_001189333.2:p.Phe365Leu