Canonical Allele Identifier: CA360717982

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880711A>C (hg19) ; chr5:g.126545019A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545019A>C , CM000667.2:g.126545019A>C	GRCh38
NC_000005.9:g.125880711A>C , CM000667.1:g.125880711A>C	GRCh37
NC_000005.8:g.125908610A>C	NCBI36
NG_008600.2:g.55372T>G
NG_008600.3:g.55372T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566T>G MANE Select	ENSP00000387123.3:p.Cys522Trp
ENST00000458249.6:c.*1475T>G	ENSP00000403929.1:n.*1475T>G
ENST00000485852.7:n.313T>G
ENST00000497231.7:n.1993T>G
ENST00000635851.1:c.1563+1305T>G
ENST00000636286.1:n.1331T>G
ENST00000636482.1:n.1100T>G
ENST00000636743.1:c.1446T>G	ENSP00000489725.1:p.Cys482Trp
ENST00000636808.1:c.*1375T>G	ENSP00000490833.1:n.*1375T>G
ENST00000636872.1:c.1726T>G	ENSP00000490919.1:n.1726T>G
ENST00000636879.1:c.1611T>G	ENSP00000490811.1:p.Cys537Trp
ENST00000636886.1:c.1365T>G	ENSP00000490371.1:p.Cys455Trp
ENST00000637206.1:c.1386T>G	ENSP00000489895.1:p.Cys462Trp
ENST00000637272.1:c.1557T>G	ENSP00000489686.1:p.Cys519Trp
ENST00000637292.1:c.1022T>G
ENST00000637782.1:c.1565+1305T>G	ENSP00000490024.1:n.1565+1305T>G
ENST00000638008.1:c.*1410T>G	ENSP00000490400.1:n.*1410T>G
ENST00000638010.1:n.1512T>G
ENST00000409134.7:c.1566T>G	ENSP00000387123.3:p.Cys522Trp
ENST00000447989.6:c.1455T>G	ENSP00000414132.2:p.Cys485Trp
ENST00000485852.6:n.313T>G
ENST00000497231.6:n.1776T>G
ENST00000553117.5:c.1374T>G	ENSP00000448593.1:p.Cys458Trp
NM_001182.4:c.1566T>G	NP_001173.2:p.Cys522Trp
NM_001201377.1:c.1482T>G	NP_001188306.1:p.Cys494Trp
NM_001202404.1:c.1455T>G	NP_001189333.1:p.Cys485Trp
XM_011543417.1:c.1161T>G	XP_011541719.1:p.Cys387Trp
XM_011543417.2:c.1161T>G	XP_011541719.1:p.Cys387Trp
NM_001182.5:c.1566T>G MANE Select	NP_001173.2:p.Cys522Trp
NM_001201377.2:c.1482T>G	NP_001188306.1:p.Cys494Trp
NM_001202404.2:c.1374T>G	NP_001189333.2:p.Cys458Trp