Canonical Allele Identifier: CA258070

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 17994
• ClinVar RCV Id: RCV000186744 ; RCV000718443 ; RCV002227440 ; RCV000019610
• dbSNP Id: rs121912707
• ExAC: 5:125887751 C / G
• gnomAD v2: 5-125887751-C-G
• gnomAD v3: 5-126552059-C-G
• gnomAD v4: 5-126552059-C-G
• MyVariant Identifiers: chr5:g.125887751C>G (hg19) ; chr5:g.126552059C>G (hg38)
• PubMed: PMID:16159904 ; PMID:16491085 ; PMID:17068770 ; PMID:17088338 ; PMID:17721876 ; PMID:20370816 ; PMID:22371912 ; PMID:22784480 ; PMID:23022070 ; PMID:23430810 ; PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552059C>G , CM000667.2:g.126552059C>G	GRCh38
NC_000005.9:g.125887751C>G , CM000667.1:g.125887751C>G	GRCh37
NC_000005.8:g.125915650C>G	NCBI36
NG_008600.2:g.48332G>C
NG_008600.3:g.48332G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1279G>C MANE Select	ENSP00000387123.3:p.Glu427Gln
ENST00000458249.6:c.*1188G>C	ENSP00000403929.1:n.*1188G>C
ENST00000497231.7:n.1706G>C
ENST00000503281.6:c.868G>C
ENST00000635851.1:c.1277G>C
ENST00000636062.1:n.1174G>C
ENST00000636225.1:c.*1223G>C	ENSP00000490797.1:n.*1223G>C
ENST00000636286.1:n.997G>C
ENST00000636482.1:n.766G>C
ENST00000636743.1:c.1159G>C	ENSP00000489725.1:p.Glu387Gln
ENST00000636808.1:c.*1088G>C	ENSP00000490833.1:n.*1088G>C
ENST00000636872.1:c.1439G>C	ENSP00000490919.1:n.1439G>C
ENST00000636879.1:c.1324G>C	ENSP00000490811.1:p.Glu442Gln
ENST00000636886.1:c.1078G>C	ENSP00000490371.1:p.Glu360Gln
ENST00000637206.1:c.1099G>C	ENSP00000489895.1:p.Glu367Gln
ENST00000637272.1:c.1270G>C	ENSP00000489686.1:p.Glu424Gln
ENST00000637292.1:c.774-1766G>C
ENST00000637782.1:c.1279G>C	ENSP00000490024.1:p.Glu427Gln
ENST00000638008.1:c.*1123G>C	ENSP00000490400.1:n.*1123G>C
ENST00000638010.1:n.1225G>C
ENST00000409134.7:c.1279G>C	ENSP00000387123.3:p.Glu427Gln
ENST00000447989.6:c.1168G>C	ENSP00000414132.2:p.Glu390Gln
ENST00000476328.1:n.44G>C
ENST00000497231.6:n.1489G>C
ENST00000503281.5:c.868G>C
ENST00000553117.5:c.1087G>C	ENSP00000448593.1:p.Glu363Gln
NM_001182.4:c.1279G>C	NP_001173.2:p.Glu427Gln
NM_001201377.1:c.1195G>C	NP_001188306.1:p.Glu399Gln
NM_001202404.1:c.1168G>C	NP_001189333.1:p.Glu390Gln
XM_011543417.1:c.874G>C	XP_011541719.1:p.Glu292Gln
XM_011543417.2:c.874G>C	XP_011541719.1:p.Glu292Gln
NM_001182.5:c.1279G>C MANE Select	NP_001173.2:p.Glu427Gln
NM_001201377.2:c.1195G>C	NP_001188306.1:p.Glu399Gln
NM_001202404.2:c.1087G>C	NP_001189333.2:p.Glu363Gln