Canonical Allele Identifier: CA360718895

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882031A>C (hg19) ; chr5:g.126546339A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546339A>C , CM000667.2:g.126546339A>C	GRCh38
NC_000005.9:g.125882031A>C , CM000667.1:g.125882031A>C	GRCh37
NC_000005.8:g.125909930A>C	NCBI36
NG_008600.2:g.54052T>G
NG_008600.3:g.54052T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1550T>G MANE Select	ENSP00000387123.3:p.Met517Arg
ENST00000458249.6:c.*1459T>G	ENSP00000403929.1:n.*1459T>G
ENST00000485852.7:n.297T>G
ENST00000497231.7:n.1977T>G
ENST00000635851.1:c.1548T>G
ENST00000636286.1:n.1315T>G
ENST00000636482.1:n.1084T>G
ENST00000636743.1:c.1430T>G	ENSP00000489725.1:p.Met477Arg
ENST00000636808.1:c.*1359T>G	ENSP00000490833.1:n.*1359T>G
ENST00000636872.1:c.1710T>G	ENSP00000490919.1:n.1710T>G
ENST00000636879.1:c.1595T>G	ENSP00000490811.1:p.Met532Arg
ENST00000636886.1:c.1349T>G	ENSP00000490371.1:p.Met450Arg
ENST00000637206.1:c.1370T>G	ENSP00000489895.1:p.Met457Arg
ENST00000637272.1:c.1541T>G	ENSP00000489686.1:p.Met514Arg
ENST00000637292.1:c.1006T>G
ENST00000637782.1:c.1550T>G	ENSP00000490024.1:p.Met517Arg
ENST00000638008.1:c.*1394T>G	ENSP00000490400.1:n.*1394T>G
ENST00000638010.1:n.1496T>G
ENST00000409134.7:c.1550T>G	ENSP00000387123.3:p.Met517Arg
ENST00000447989.6:c.1439T>G	ENSP00000414132.2:p.Met480Arg
ENST00000485852.6:n.297T>G
ENST00000497231.6:n.1760T>G
ENST00000553117.5:c.1358T>G	ENSP00000448593.1:p.Met453Arg
NM_001182.4:c.1550T>G	NP_001173.2:p.Met517Arg
NM_001201377.1:c.1466T>G	NP_001188306.1:p.Met489Arg
NM_001202404.1:c.1439T>G	NP_001189333.1:p.Met480Arg
XM_011543417.1:c.1145T>G	XP_011541719.1:p.Met382Arg
XM_011543417.2:c.1145T>G	XP_011541719.1:p.Met382Arg
NM_001182.5:c.1550T>G MANE Select	NP_001173.2:p.Met517Arg
NM_001201377.2:c.1466T>G	NP_001188306.1:p.Met489Arg
NM_001202404.2:c.1358T>G	NP_001189333.2:p.Met453Arg