Canonical Allele Identifier: CA360723073

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887760C>G (hg19) ; chr5:g.126552068C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552068C>G , CM000667.2:g.126552068C>G	GRCh38
NC_000005.9:g.125887760C>G , CM000667.1:g.125887760C>G	GRCh37
NC_000005.8:g.125915659C>G	NCBI36
NG_008600.2:g.48323G>C
NG_008600.3:g.48323G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1270G>C MANE Select	ENSP00000387123.3:p.Ala424Pro
ENST00000458249.6:c.*1179G>C	ENSP00000403929.1:n.*1179G>C
ENST00000497231.7:n.1697G>C
ENST00000503281.6:c.859G>C
ENST00000635851.1:c.1268G>C
ENST00000636062.1:n.1165G>C
ENST00000636225.1:c.*1214G>C	ENSP00000490797.1:n.*1214G>C
ENST00000636286.1:n.988G>C
ENST00000636482.1:n.757G>C
ENST00000636743.1:c.1150G>C	ENSP00000489725.1:p.Ala384Pro
ENST00000636808.1:c.*1079G>C	ENSP00000490833.1:n.*1079G>C
ENST00000636872.1:c.1430G>C	ENSP00000490919.1:n.1430G>C
ENST00000636879.1:c.1315G>C	ENSP00000490811.1:p.Ala439Pro
ENST00000636886.1:c.1069G>C	ENSP00000490371.1:p.Ala357Pro
ENST00000637206.1:c.1090G>C	ENSP00000489895.1:p.Ala364Pro
ENST00000637272.1:c.1261G>C	ENSP00000489686.1:p.Ala421Pro
ENST00000637292.1:c.774-1775G>C
ENST00000637782.1:c.1270G>C	ENSP00000490024.1:p.Ala424Pro
ENST00000638008.1:c.*1114G>C	ENSP00000490400.1:n.*1114G>C
ENST00000638010.1:n.1216G>C
ENST00000409134.7:c.1270G>C	ENSP00000387123.3:p.Ala424Pro
ENST00000447989.6:c.1159G>C	ENSP00000414132.2:p.Ala387Pro
ENST00000476328.1:n.35G>C
ENST00000497231.6:n.1480G>C
ENST00000503281.5:c.859G>C
ENST00000553117.5:c.1078G>C	ENSP00000448593.1:p.Ala360Pro
NM_001182.4:c.1270G>C	NP_001173.2:p.Ala424Pro
NM_001201377.1:c.1186G>C	NP_001188306.1:p.Ala396Pro
NM_001202404.1:c.1159G>C	NP_001189333.1:p.Ala387Pro
XM_011543417.1:c.865G>C	XP_011541719.1:p.Ala289Pro
XM_011543417.2:c.865G>C	XP_011541719.1:p.Ala289Pro
NM_001182.5:c.1270G>C MANE Select	NP_001173.2:p.Ala424Pro
NM_001201377.2:c.1186G>C	NP_001188306.1:p.Ala396Pro
NM_001202404.2:c.1078G>C	NP_001189333.2:p.Ala360Pro