Canonical Allele Identifier: CA360718973

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882039T>G (hg19) ; chr5:g.126546347T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546347T>G , CM000667.2:g.126546347T>G	GRCh38
NC_000005.9:g.125882039T>G , CM000667.1:g.125882039T>G	GRCh37
NC_000005.8:g.125909938T>G	NCBI36
NG_008600.2:g.54044A>C
NG_008600.3:g.54044A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1542A>C MANE Select	ENSP00000387123.3:p.Lys514Asn
ENST00000458249.6:c.*1451A>C	ENSP00000403929.1:n.*1451A>C
ENST00000485852.7:n.289A>C
ENST00000497231.7:n.1969A>C
ENST00000635851.1:c.1540A>C
ENST00000636225.1:c.*1486A>C	ENSP00000490797.1:n.*1486A>C
ENST00000636286.1:n.1307A>C
ENST00000636482.1:n.1076A>C
ENST00000636743.1:c.1422A>C	ENSP00000489725.1:p.Lys474Asn
ENST00000636808.1:c.*1351A>C	ENSP00000490833.1:n.*1351A>C
ENST00000636872.1:c.1702A>C	ENSP00000490919.1:n.1702A>C
ENST00000636879.1:c.1587A>C	ENSP00000490811.1:p.Lys529Asn
ENST00000636886.1:c.1341A>C	ENSP00000490371.1:p.Lys447Asn
ENST00000637206.1:c.1362A>C	ENSP00000489895.1:p.Lys454Asn
ENST00000637272.1:c.1533A>C	ENSP00000489686.1:p.Lys511Asn
ENST00000637292.1:c.998A>C
ENST00000637782.1:c.1542A>C	ENSP00000490024.1:p.Lys514Asn
ENST00000638008.1:c.*1386A>C	ENSP00000490400.1:n.*1386A>C
ENST00000638010.1:n.1488A>C
ENST00000409134.7:c.1542A>C	ENSP00000387123.3:p.Lys514Asn
ENST00000447989.6:c.1431A>C	ENSP00000414132.2:p.Lys477Asn
ENST00000485852.6:n.289A>C
ENST00000497231.6:n.1752A>C
ENST00000553117.5:c.1350A>C	ENSP00000448593.1:p.Lys450Asn
NM_001182.4:c.1542A>C	NP_001173.2:p.Lys514Asn
NM_001201377.1:c.1458A>C	NP_001188306.1:p.Lys486Asn
NM_001202404.1:c.1431A>C	NP_001189333.1:p.Lys477Asn
XM_011543417.1:c.1137A>C	XP_011541719.1:p.Lys379Asn
XM_011543417.2:c.1137A>C	XP_011541719.1:p.Lys379Asn
NM_001182.5:c.1542A>C MANE Select	NP_001173.2:p.Lys514Asn
NM_001201377.2:c.1458A>C	NP_001188306.1:p.Lys486Asn
NM_001202404.2:c.1350A>C	NP_001189333.2:p.Lys450Asn