Canonical Allele Identifier: CA360722845

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887736T>G (hg19) ; chr5:g.126552044T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552044T>G , CM000667.2:g.126552044T>G	GRCh38
NC_000005.9:g.125887736T>G , CM000667.1:g.125887736T>G	GRCh37
NC_000005.8:g.125915635T>G	NCBI36
NG_008600.2:g.48347A>C
NG_008600.3:g.48347A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1294A>C MANE Select	ENSP00000387123.3:p.Ile432Leu
ENST00000458249.6:c.*1203A>C	ENSP00000403929.1:n.*1203A>C
ENST00000497231.7:n.1721A>C
ENST00000503281.6:c.883A>C
ENST00000635851.1:c.1292A>C
ENST00000636062.1:n.1189A>C
ENST00000636225.1:c.*1238A>C	ENSP00000490797.1:n.*1238A>C
ENST00000636286.1:n.1012A>C
ENST00000636482.1:n.781A>C
ENST00000636743.1:c.1174A>C	ENSP00000489725.1:p.Ile392Leu
ENST00000636808.1:c.*1103A>C	ENSP00000490833.1:n.*1103A>C
ENST00000636872.1:c.1454A>C	ENSP00000490919.1:n.1454A>C
ENST00000636879.1:c.1339A>C	ENSP00000490811.1:p.Ile447Leu
ENST00000636886.1:c.1093A>C	ENSP00000490371.1:p.Ile365Leu
ENST00000637206.1:c.1114A>C	ENSP00000489895.1:p.Ile372Leu
ENST00000637272.1:c.1285A>C	ENSP00000489686.1:p.Ile429Leu
ENST00000637292.1:c.774-1751A>C
ENST00000637782.1:c.1294A>C	ENSP00000490024.1:p.Ile432Leu
ENST00000638008.1:c.*1138A>C	ENSP00000490400.1:n.*1138A>C
ENST00000638010.1:n.1240A>C
ENST00000409134.7:c.1294A>C	ENSP00000387123.3:p.Ile432Leu
ENST00000447989.6:c.1183A>C	ENSP00000414132.2:p.Ile395Leu
ENST00000476328.1:n.59A>C
ENST00000497231.6:n.1504A>C
ENST00000503281.5:c.883A>C
ENST00000553117.5:c.1102A>C	ENSP00000448593.1:p.Ile368Leu
NM_001182.4:c.1294A>C	NP_001173.2:p.Ile432Leu
NM_001201377.1:c.1210A>C	NP_001188306.1:p.Ile404Leu
NM_001202404.1:c.1183A>C	NP_001189333.1:p.Ile395Leu
XM_011543417.1:c.889A>C	XP_011541719.1:p.Ile297Leu
XM_011543417.2:c.889A>C	XP_011541719.1:p.Ile297Leu
NM_001182.5:c.1294A>C MANE Select	NP_001173.2:p.Ile432Leu
NM_001201377.2:c.1210A>C	NP_001188306.1:p.Ile404Leu
NM_001202404.2:c.1102A>C	NP_001189333.2:p.Ile368Leu