Canonical Allele Identifier: CA360731747

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125918571C>G (hg19) ; chr5:g.126582879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126582879C>G , CM000667.2:g.126582879C>G	GRCh38
NC_000005.9:g.125918571C>G , CM000667.1:g.125918571C>G	GRCh37
NC_000005.8:g.125946470C>G	NCBI36
NG_008600.2:g.17512G>C
NG_008600.3:g.17512G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.489G>C MANE Select	ENSP00000387123.3:p.Met163Ile
ENST00000412186.2:c.393+1053G>C	ENSP00000414536.2:n.393+1053G>C
ENST00000413020.6:c.489G>C	ENSP00000487936.1:p.Met163Ile
ENST00000458249.6:c.*398G>C	ENSP00000403929.1:n.*398G>C
ENST00000503281.6:c.107-5668G>C
ENST00000509270.2:c.423G>C	ENSP00000449318.2:p.Met141Ile
ENST00000509459.6:c.66-5668G>C
ENST00000511266.6:n.1211G>C
ENST00000635851.1:c.487G>C
ENST00000636062.1:n.384G>C
ENST00000636190.1:n.368G>C
ENST00000636225.1:c.*298G>C	ENSP00000490797.1:n.*298G>C
ENST00000636286.1:n.207G>C
ENST00000636743.1:c.369G>C	ENSP00000489725.1:p.Met123Ile
ENST00000636808.1:c.*298G>C	ENSP00000490833.1:n.*298G>C
ENST00000636872.1:c.649G>C	ENSP00000490919.1:n.649G>C
ENST00000636879.1:c.489G>C	ENSP00000490811.1:p.Met163Ile
ENST00000636886.1:c.288G>C	ENSP00000490371.1:p.Met96Ile
ENST00000637070.1:n.103G>C
ENST00000637206.1:c.489G>C	ENSP00000489895.1:p.Met163Ile
ENST00000637272.1:c.489G>C	ENSP00000489686.1:p.Met163Ile
ENST00000637292.1:c.142G>C
ENST00000637782.1:c.489G>C	ENSP00000490024.1:p.Met163Ile
ENST00000637964.1:c.435G>C	ENSP00000490291.1:p.Met145Ile
ENST00000638008.1:c.*431G>C	ENSP00000490400.1:n.*431G>C
ENST00000409134.7:c.489G>C	ENSP00000387123.3:p.Met163Ile
ENST00000413020.5:c.489G>C	ENSP00000487936.1:p.Met163Ile
ENST00000447989.6:c.570G>C	ENSP00000414132.2:p.Met190Ile
ENST00000458249.5:c.649G>C	ENSP00000403929.1:n.649G>C
ENST00000503281.5:c.107-5668G>C
ENST00000509270.1:c.369G>C	ENSP00000449318.1:p.Met123Ile
ENST00000509459.5:c.66-5668G>C
ENST00000510111.6:c.402G>C	ENSP00000447388.1:p.Met134Ile
ENST00000511266.5:n.348+1053G>C
ENST00000553117.5:c.489G>C	ENSP00000448593.1:p.Met163Ile
NM_001182.4:c.489G>C	NP_001173.2:p.Met163Ile
NM_001201377.1:c.405G>C	NP_001188306.1:p.Met135Ile
NM_001202404.1:c.570G>C	NP_001189333.1:p.Met190Ile
XM_011543417.1:c.84G>C	XP_011541719.1:p.Met28Ile
XM_011543417.2:c.84G>C	XP_011541719.1:p.Met28Ile
NM_001182.5:c.489G>C MANE Select	NP_001173.2:p.Met163Ile
NM_001201377.2:c.405G>C	NP_001188306.1:p.Met135Ile
NM_001202404.2:c.489G>C	NP_001189333.2:p.Met163Ile