Canonical Allele Identifier: CA360717882

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880700T>G (hg19) ; chr5:g.126545008T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545008T>G , CM000667.2:g.126545008T>G	GRCh38
NC_000005.9:g.125880700T>G , CM000667.1:g.125880700T>G	GRCh37
NC_000005.8:g.125908599T>G	NCBI36
NG_008600.2:g.55383A>C
NG_008600.3:g.55383A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1577A>C MANE Select	ENSP00000387123.3:p.Tyr526Ser
ENST00000458249.6:c.*1486A>C	ENSP00000403929.1:n.*1486A>C
ENST00000485852.7:n.324A>C
ENST00000497231.7:n.2004A>C
ENST00000635851.1:c.1563+1316A>C
ENST00000636286.1:n.1342A>C
ENST00000636482.1:n.1111A>C
ENST00000636743.1:c.1457A>C	ENSP00000489725.1:p.Tyr486Ser
ENST00000636808.1:c.*1386A>C	ENSP00000490833.1:n.*1386A>C
ENST00000636872.1:c.1737A>C	ENSP00000490919.1:n.1737A>C
ENST00000636879.1:c.1622A>C	ENSP00000490811.1:p.Tyr541Ser
ENST00000636886.1:c.1376A>C	ENSP00000490371.1:p.Tyr459Ser
ENST00000637206.1:c.1397A>C	ENSP00000489895.1:p.Tyr466Ser
ENST00000637272.1:c.1568A>C	ENSP00000489686.1:p.Tyr523Ser
ENST00000637292.1:c.1033A>C
ENST00000637782.1:c.1565+1316A>C	ENSP00000490024.1:n.1565+1316A>C
ENST00000638008.1:c.*1421A>C	ENSP00000490400.1:n.*1421A>C
ENST00000638010.1:n.1523A>C
ENST00000409134.7:c.1577A>C	ENSP00000387123.3:p.Tyr526Ser
ENST00000447989.6:c.1466A>C	ENSP00000414132.2:p.Tyr489Ser
ENST00000485852.6:n.324A>C
ENST00000497231.6:n.1787A>C
ENST00000553117.5:c.1385A>C	ENSP00000448593.1:p.Tyr462Ser
NM_001182.4:c.1577A>C	NP_001173.2:p.Tyr526Ser
NM_001201377.1:c.1493A>C	NP_001188306.1:p.Tyr498Ser
NM_001202404.1:c.1466A>C	NP_001189333.1:p.Tyr489Ser
XM_011543417.1:c.1172A>C	XP_011541719.1:p.Tyr391Ser
XM_011543417.2:c.1172A>C	XP_011541719.1:p.Tyr391Ser
NM_001182.5:c.1577A>C MANE Select	NP_001173.2:p.Tyr526Ser
NM_001201377.2:c.1493A>C	NP_001188306.1:p.Tyr498Ser
NM_001202404.2:c.1385A>C	NP_001189333.2:p.Tyr462Ser