Canonical Allele Identifier: CA360717768

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880689G>C (hg19) ; chr5:g.126544997G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544997G>C , CM000667.2:g.126544997G>C	GRCh38
NC_000005.9:g.125880689G>C , CM000667.1:g.125880689G>C	GRCh37
NC_000005.8:g.125908588G>C	NCBI36
NG_008600.2:g.55394C>G
NG_008600.3:g.55394C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1588C>G MANE Select	ENSP00000387123.3:p.Leu530Val
ENST00000458249.6:c.*1497C>G	ENSP00000403929.1:n.*1497C>G
ENST00000485852.7:n.335C>G
ENST00000497231.7:n.2015C>G
ENST00000635851.1:c.1563+1327C>G
ENST00000636286.1:n.1353C>G
ENST00000636482.1:n.1122C>G
ENST00000636743.1:c.1468C>G	ENSP00000489725.1:p.Leu490Val
ENST00000636808.1:c.*1397C>G	ENSP00000490833.1:n.*1397C>G
ENST00000636872.1:c.1748C>G	ENSP00000490919.1:n.1748C>G
ENST00000636879.1:c.1633C>G	ENSP00000490811.1:p.Leu545Val
ENST00000636886.1:c.1387C>G	ENSP00000490371.1:p.Leu463Val
ENST00000637206.1:c.1408C>G	ENSP00000489895.1:p.Leu470Val
ENST00000637272.1:c.1579C>G	ENSP00000489686.1:p.Leu527Val
ENST00000637292.1:c.1044C>G
ENST00000637782.1:c.1565+1327C>G	ENSP00000490024.1:n.1565+1327C>G
ENST00000638008.1:c.*1432C>G	ENSP00000490400.1:n.*1432C>G
ENST00000638010.1:n.1534C>G
ENST00000409134.7:c.1588C>G	ENSP00000387123.3:p.Leu530Val
ENST00000447989.6:c.1477C>G	ENSP00000414132.2:p.Leu493Val
ENST00000485852.6:n.335C>G
ENST00000497231.6:n.1798C>G
ENST00000553117.5:c.1396C>G	ENSP00000448593.1:p.Leu466Val
NM_001182.4:c.1588C>G	NP_001173.2:p.Leu530Val
NM_001201377.1:c.1504C>G	NP_001188306.1:p.Leu502Val
NM_001202404.1:c.1477C>G	NP_001189333.1:p.Leu493Val
XM_011543417.1:c.1183C>G	XP_011541719.1:p.Leu395Val
XM_011543417.2:c.1183C>G	XP_011541719.1:p.Leu395Val
NM_001182.5:c.1588C>G MANE Select	NP_001173.2:p.Leu530Val
NM_001201377.2:c.1504C>G	NP_001188306.1:p.Leu502Val
NM_001202404.2:c.1396C>G	NP_001189333.2:p.Leu466Val