Canonical Allele Identifier: CA360730967

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912781C>G (hg19) ; chr5:g.126577089C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577089C>G , CM000667.2:g.126577089C>G	GRCh38
NC_000005.9:g.125912781C>G , CM000667.1:g.125912781C>G	GRCh37
NC_000005.8:g.125940680C>G	NCBI36
NG_008600.2:g.23302G>C
NG_008600.3:g.23302G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.640G>C MANE Select	ENSP00000387123.3:p.Val214Leu
ENST00000412186.2:c.516G>C	ENSP00000414536.2:n.516G>C
ENST00000413020.6:c.640G>C	ENSP00000487936.1:p.Val214Leu
ENST00000458249.6:c.*549G>C	ENSP00000403929.1:n.*549G>C
ENST00000503281.6:c.229G>C
ENST00000509270.2:c.574G>C	ENSP00000449318.2:p.Val192Leu
ENST00000509459.6:c.188G>C
ENST00000511266.6:n.1362G>C
ENST00000635851.1:c.638G>C
ENST00000636062.1:n.535G>C
ENST00000636225.1:c.*449G>C	ENSP00000490797.1:n.*449G>C
ENST00000636286.1:n.358G>C
ENST00000636743.1:c.520G>C	ENSP00000489725.1:p.Val174Leu
ENST00000636808.1:c.*449G>C	ENSP00000490833.1:n.*449G>C
ENST00000636872.1:c.800G>C	ENSP00000490919.1:n.800G>C
ENST00000636879.1:c.685G>C	ENSP00000490811.1:p.Val229Leu
ENST00000636886.1:c.439G>C	ENSP00000490371.1:p.Val147Leu
ENST00000637206.1:c.640G>C	ENSP00000489895.1:p.Val214Leu
ENST00000637272.1:c.640G>C	ENSP00000489686.1:p.Val214Leu
ENST00000637292.1:c.293G>C
ENST00000637782.1:c.640G>C	ENSP00000490024.1:p.Val214Leu
ENST00000637964.1:c.586G>C	ENSP00000490291.1:p.Val196Leu
ENST00000638008.1:c.*582G>C	ENSP00000490400.1:n.*582G>C
ENST00000409134.7:c.640G>C	ENSP00000387123.3:p.Val214Leu
ENST00000413020.5:c.640G>C	ENSP00000487936.1:p.Val214Leu
ENST00000433026.5:n.167G>C
ENST00000447989.6:c.721G>C	ENSP00000414132.2:p.Val241Leu
ENST00000458249.5:c.800G>C	ENSP00000403929.1:n.800G>C
ENST00000503281.5:c.229G>C
ENST00000509459.5:c.188G>C
ENST00000510111.6:c.553G>C	ENSP00000447388.1:p.Val185Leu
ENST00000511266.5:n.471G>C
ENST00000553117.5:c.640G>C	ENSP00000448593.1:p.Val214Leu
NM_001182.4:c.640G>C	NP_001173.2:p.Val214Leu
NM_001201377.1:c.556G>C	NP_001188306.1:p.Val186Leu
NM_001202404.1:c.721G>C	NP_001189333.1:p.Val241Leu
XM_011543417.1:c.235G>C	XP_011541719.1:p.Val79Leu
XM_011543417.2:c.235G>C	XP_011541719.1:p.Val79Leu
NM_001182.5:c.640G>C MANE Select	NP_001173.2:p.Val214Leu
NM_001201377.2:c.556G>C	NP_001188306.1:p.Val186Leu
NM_001202404.2:c.640G>C	NP_001189333.2:p.Val214Leu