Canonical Allele Identifier: CA360722577

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887713C>G (hg19) ; chr5:g.126552021C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552021C>G , CM000667.2:g.126552021C>G	GRCh38
NC_000005.9:g.125887713C>G , CM000667.1:g.125887713C>G	GRCh37
NC_000005.8:g.125915612C>G	NCBI36
NG_008600.2:g.48370G>C
NG_008600.3:g.48370G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1317G>C MANE Select	ENSP00000387123.3:p.Lys439Asn
ENST00000458249.6:c.*1226G>C	ENSP00000403929.1:n.*1226G>C
ENST00000497231.7:n.1744G>C
ENST00000503281.6:c.906G>C
ENST00000635851.1:c.1315G>C
ENST00000636062.1:n.1212G>C
ENST00000636225.1:c.*1261G>C	ENSP00000490797.1:n.*1261G>C
ENST00000636286.1:n.1035G>C
ENST00000636482.1:n.804G>C
ENST00000636743.1:c.1197G>C	ENSP00000489725.1:p.Lys399Asn
ENST00000636808.1:c.*1126G>C	ENSP00000490833.1:n.*1126G>C
ENST00000636872.1:c.1477G>C	ENSP00000490919.1:n.1477G>C
ENST00000636879.1:c.1362G>C	ENSP00000490811.1:p.Lys454Asn
ENST00000636886.1:c.1116G>C	ENSP00000490371.1:p.Lys372Asn
ENST00000637206.1:c.1137G>C	ENSP00000489895.1:p.Lys379Asn
ENST00000637272.1:c.1308G>C	ENSP00000489686.1:p.Lys436Asn
ENST00000637292.1:c.774-1728G>C
ENST00000637782.1:c.1317G>C	ENSP00000490024.1:p.Lys439Asn
ENST00000638008.1:c.*1161G>C	ENSP00000490400.1:n.*1161G>C
ENST00000638010.1:n.1263G>C
ENST00000409134.7:c.1317G>C	ENSP00000387123.3:p.Lys439Asn
ENST00000447989.6:c.1206G>C	ENSP00000414132.2:p.Lys402Asn
ENST00000476328.1:n.82G>C
ENST00000497231.6:n.1527G>C
ENST00000503281.5:c.906G>C
ENST00000553117.5:c.1125G>C	ENSP00000448593.1:p.Lys375Asn
NM_001182.4:c.1317G>C	NP_001173.2:p.Lys439Asn
NM_001201377.1:c.1233G>C	NP_001188306.1:p.Lys411Asn
NM_001202404.1:c.1206G>C	NP_001189333.1:p.Lys402Asn
XM_011543417.1:c.912G>C	XP_011541719.1:p.Lys304Asn
XM_011543417.2:c.912G>C	XP_011541719.1:p.Lys304Asn
NM_001182.5:c.1317G>C MANE Select	NP_001173.2:p.Lys439Asn
NM_001201377.2:c.1233G>C	NP_001188306.1:p.Lys411Asn
NM_001202404.2:c.1125G>C	NP_001189333.2:p.Lys375Asn