Canonical Allele Identifier: CA6426602

Gene: PEX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7210151G>A , CM000674.2:g.7210151G>A	GRCh38
NC_000012.11:g.7362747G>A , CM000674.1:g.7362747G>A	GRCh37
NC_000012.10:g.7254014G>A	NCBI36
NG_008448.1:g.25989G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001351132.2:c.1848G>A MANE Select	NP_001338061.1:p.Gln616=
ENST00000675855.1:c.1848G>A MANE Select	ENSP00000502374.1:p.Gln616=
NM_000319.4:c.1824G>A	NP_000310.2:p.Gln608=
NM_000319.5:c.1824G>A	NP_000310.2:p.Gln608=
NM_001131023.1:c.1893G>A	NP_001124495.1:p.Gln631=
NM_001131023.2:c.1893G>A	NP_001124495.1:p.Gln631=
NM_001131024.1:c.1737G>A	NP_001124496.1:p.Gln579=
NM_001131024.2:c.1737G>A	NP_001124496.1:p.Gln579=
NM_001131025.1:c.1848G>A	NP_001124497.1:p.Gln616=
NM_001131025.2:c.1848G>A	NP_001124497.1:p.Gln616=
NM_001131026.1:c.1848G>A	NP_001124498.1:p.Gln616=
NM_001131026.2:c.1848G>A	NP_001124498.1:p.Gln616=
NM_001300789.1:c.1911G>A	NP_001287718.1:p.Gln637=
NM_001300789.3:c.1848G>A	NP_001287718.2:p.Gln616=
NM_001351124.1:c.1737G>A	NP_001338053.1:p.Gln579=
NM_001351124.3:c.1737G>A	NP_001338053.1:p.Gln579=
NM_001351126.1:c.1737G>A	NP_001338055.1:p.Gln579=
NM_001351126.2:c.1737G>A	NP_001338055.1:p.Gln579=
NM_001351127.1:c.1737G>A	NP_001338056.1:p.Gln579=
NM_001351127.2:c.1737G>A	NP_001338056.1:p.Gln579=
NM_001351128.1:c.1737G>A	NP_001338057.1:p.Gln579=
NM_001351128.2:c.1737G>A	NP_001338057.1:p.Gln579=
NM_001351130.1:c.1737G>A	NP_001338059.1:p.Gln579=
NM_001351130.3:c.1737G>A	NP_001338059.1:p.Gln579=
NM_001351131.1:c.1848G>A	NP_001338060.1:p.Gln616=
NM_001351131.2:c.1848G>A	NP_001338060.1:p.Gln616=
NM_001351132.1:c.1848G>A	NP_001338061.1:p.Gln616=
NM_001351133.1:c.1848G>A	NP_001338062.1:p.Gln616=
NM_001351133.2:c.1848G>A	NP_001338062.1:p.Gln616=
NM_001351134.1:c.1848G>A	NP_001338063.1:p.Gln616=
NM_001351134.2:c.1848G>A	NP_001338063.1:p.Gln616=
NM_001351135.1:c.1845G>A	NP_001338064.1:p.Gln615=
NM_001351135.3:c.1782G>A	NP_001338064.2:p.Gln594=
NM_001351136.1:c.1839G>A	NP_001338065.1:p.Gln613=
NM_001351136.2:c.1839G>A	NP_001338065.1:p.Gln613=
NM_001351137.1:c.1800G>A	NP_001338066.1:p.Gln600=
NM_001351137.3:c.1737G>A	NP_001338066.2:p.Gln579=
NM_001351138.1:c.1782G>A	NP_001338067.1:p.Gln594=
NM_001351138.2:c.1782G>A	NP_001338067.1:p.Gln594=
NM_001351139.1:c.1713G>A	NP_001338068.1:p.Gln571=
NM_001351139.2:c.1713G>A	NP_001338068.1:p.Gln571=
NM_001351140.1:c.1713G>A	NP_001338069.1:p.Gln571=
NM_001351140.2:c.1713G>A	NP_001338069.1:p.Gln571=
NM_001374645.1:c.1737G>A	NP_001361574.1:p.Gln579=
NM_001374646.1:c.1737G>A	NP_001361575.1:p.Gln579=
NM_001374647.2:c.1848G>A	NP_001361576.1:p.Gln616=
NM_001374648.2:c.1737G>A	NP_001361577.1:p.Gln579=
NM_001374649.2:c.1713G>A	NP_001361578.1:p.Gln571=
ENST00000266563.9:c.1737G>A	ENSP00000266563.5:p.Gln579=
ENST00000266564.7:c.1824G>A	ENSP00000266564.3:p.Gln608=
ENST00000412720.6:c.1911G>A	ENSP00000391601.2:p.Gln637=
ENST00000420616.6:c.1848G>A	ENSP00000410159.2:p.Gln616=
ENST00000434354.6:c.1893G>A	ENSP00000407401.2:p.Gln631=
ENST00000455147.6:c.1848G>A	ENSP00000400647.2:p.Gln616=
ENST00000541850.1:c.22G>A
XM_005253455.1:c.1800G>A	XP_005253512.1:p.Gln600=
XM_011520793.1:c.1956G>A	XP_011519095.1:p.Gln652=
XM_011520793.2:c.1956G>A	XP_011519095.1:p.Gln652=
XM_011520794.1:c.1956G>A	XP_011519096.1:p.Gln652=
XM_011520795.1:c.1893G>A	XP_011519097.1:p.Gln631=
XM_011520796.1:c.1893G>A	XP_011519098.1:p.Gln631=
XM_011520797.1:c.1848G>A	XP_011519099.1:p.Gln616=
XM_011520798.1:c.1848G>A	XP_011519100.1:p.Gln616=
XM_011520799.1:c.1848G>A	XP_011519101.1:p.Gln616=
XM_011520800.1:c.1848G>A	XP_011519102.1:p.Gln616=
XM_011520801.1:c.1845G>A	XP_011519103.1:p.Gln615=
XM_011520802.1:c.1599G>A	XP_011519104.1:p.Gln533=
XM_011520802.2:c.1599G>A	XP_011519104.1:p.Gln533=
XM_017019744.1:c.2292G>A	XP_016875233.1:p.Gln764=
XM_017019745.1:c.2292G>A	XP_016875234.1:p.Gln764=
XM_017019746.1:c.2181G>A	XP_016875235.1:p.Gln727=
XM_017019747.1:c.2157G>A	XP_016875236.1:p.Gln719=
XM_017019748.1:c.1893G>A	XP_016875237.1:p.Gln631=
XM_017019749.1:c.1848G>A	XP_016875238.1:p.Gln616=
XM_017019750.1:c.1824G>A	XP_016875239.1:p.Gln608=
XR_001748833.1:n.2334G>A