Canonical Allele Identifier: CA360729267
Community Standard Title: NM_001182.5(ALDH7A1):c.841C>T (p.Gln281Ter)
Gene: ALDH7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126568289G>A , CM000667.2:g.126568289G>A GRCh38
NC_000005.9:g.125903981G>A , CM000667.1:g.125903981G>A GRCh37
NC_000005.8:g.125931880G>A NCBI36
NG_008600.2:g.32102C>T
NG_008600.3:g.32102C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001182.5:c.841C>T MANE Select NP_001173.2:p.Gln281Ter
ENST00000409134.8:c.841C>T MANE Select ENSP00000387123.3:p.Gln281Ter
NM_001182.4:c.841C>T NP_001173.2:p.Gln281Ter
NM_001201377.1:c.757C>T NP_001188306.1:p.Gln253Ter
NM_001201377.2:c.757C>T NP_001188306.1:p.Gln253Ter
NM_001202404.1:c.922C>T NP_001189333.1:p.Gln308Ter
NM_001202404.2:c.841C>T NP_001189333.2:p.Gln281Ter
ENST00000409134.7:c.841C>T ENSP00000387123.3:p.Gln281Ter
ENST00000413020.5:c.841C>T ENSP00000487936.1:p.Gln281Ter
ENST00000413020.6:c.841C>T ENSP00000487936.1:p.Gln281Ter
ENST00000433026.5:n.368C>T
ENST00000447989.6:c.922C>T ENSP00000414132.2:p.Gln308Ter
ENST00000458249.5:c.1001C>T ENSP00000403929.1:n.1001C>T
ENST00000458249.6:c.*750C>T ENSP00000403929.1:n.*750C>T
ENST00000503281.5:c.430C>T
ENST00000503281.6:c.430C>T
ENST00000509459.5:c.389C>T
ENST00000509459.6:c.389C>T
ENST00000511266.6:n.1563C>T
ENST00000553117.5:c.841C>T ENSP00000448593.1:p.Gln281Ter
ENST00000635851.1:c.839C>T
ENST00000636062.1:n.736C>T
ENST00000636225.1:c.*650C>T ENSP00000490797.1:n.*650C>T
ENST00000636286.1:n.559C>T
ENST00000636743.1:c.721C>T ENSP00000489725.1:p.Gln241Ter
ENST00000636808.1:c.*650C>T ENSP00000490833.1:n.*650C>T
ENST00000636872.1:c.1001C>T ENSP00000490919.1:n.1001C>T
ENST00000636879.1:c.886C>T ENSP00000490811.1:p.Gln296Ter
ENST00000636886.1:c.640C>T ENSP00000490371.1:p.Gln214Ter
ENST00000636892.1:n.2849C>T
ENST00000637206.1:c.841C>T ENSP00000489895.1:p.Gln281Ter
ENST00000637272.1:c.841C>T ENSP00000489686.1:p.Gln281Ter
ENST00000637292.1:c.426+2493C>T
ENST00000637782.1:c.841C>T ENSP00000490024.1:p.Gln281Ter
ENST00000637964.1:c.787C>T ENSP00000490291.1:p.Gln263Ter
ENST00000638008.1:c.*715+2493C>T ENSP00000490400.1:n.*715+2493C>T
XM_011543417.1:c.436C>T XP_011541719.1:p.Gln146Ter
XM_011543417.2:c.436C>T XP_011541719.1:p.Gln146Ter