Canonical Allele Identifier: CA3389436

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126550255T>G , CM000667.2:g.126550255T>G	GRCh38
NC_000005.9:g.125885947T>G , CM000667.1:g.125885947T>G	GRCh37
NC_000005.8:g.125913846T>G	NCBI36
NG_008600.2:g.50136A>C
NG_008600.3:g.50136A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1356A>C MANE Select	NP_001173.2:p.Lys452Asn
ENST00000409134.8:c.1356A>C MANE Select	ENSP00000387123.3:p.Lys452Asn
NM_001182.4:c.1356A>C	NP_001173.2:p.Lys452Asn
NM_001201377.1:c.1272A>C	NP_001188306.1:p.Lys424Asn
NM_001201377.2:c.1272A>C	NP_001188306.1:p.Lys424Asn
NM_001202404.1:c.1245A>C	NP_001189333.1:p.Lys415Asn
NM_001202404.2:c.1164A>C	NP_001189333.2:p.Lys388Asn
ENST00000409134.7:c.1356A>C	ENSP00000387123.3:p.Lys452Asn
ENST00000447989.6:c.1245A>C	ENSP00000414132.2:p.Lys415Asn
ENST00000458249.6:c.*1265A>C	ENSP00000403929.1:n.*1265A>C
ENST00000476328.1:n.121A>C
ENST00000497231.6:n.1566A>C
ENST00000497231.7:n.1783A>C
ENST00000553117.5:c.1164A>C	ENSP00000448593.1:p.Lys388Asn
ENST00000635851.1:c.1354A>C
ENST00000636062.1:n.1251A>C
ENST00000636225.1:c.*1300A>C	ENSP00000490797.1:n.*1300A>C
ENST00000636286.1:n.1074A>C
ENST00000636482.1:n.843A>C
ENST00000636743.1:c.1236A>C	ENSP00000489725.1:p.Lys412Asn
ENST00000636808.1:c.*1165A>C	ENSP00000490833.1:n.*1165A>C
ENST00000636872.1:c.1516A>C	ENSP00000490919.1:n.1516A>C
ENST00000636879.1:c.1401A>C	ENSP00000490811.1:p.Lys467Asn
ENST00000636886.1:c.1155A>C	ENSP00000490371.1:p.Lys385Asn
ENST00000637206.1:c.1176A>C	ENSP00000489895.1:p.Lys392Asn
ENST00000637272.1:c.1347A>C	ENSP00000489686.1:p.Lys449Asn
ENST00000637292.1:c.812A>C
ENST00000637782.1:c.1356A>C	ENSP00000490024.1:p.Lys452Asn
ENST00000638008.1:c.*1200A>C	ENSP00000490400.1:n.*1200A>C
ENST00000638010.1:n.1302A>C
XM_011543417.1:c.951A>C	XP_011541719.1:p.Lys317Asn
XM_011543417.2:c.951A>C	XP_011541719.1:p.Lys317Asn