Canonical Allele Identifier: CA412341700

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13753375C>A , CM000685.2:g.13753375C>A	GRCh38
NC_000023.10:g.13771494C>A , CM000685.1:g.13771494C>A	GRCh37
NC_000023.9:g.13681415C>A	NCBI36
NG_008872.1:g.23663C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.1063C>A MANE Select	NP_003602.1:p.Leu355Ile
ENST00000340096.11:c.1063C>A MANE Select	ENSP00000344314.6:p.Leu355Ile
NM_001330209.1:c.943C>A	NP_001317138.1:p.Leu315Ile
NM_001330209.2:c.943C>A	NP_001317138.1:p.Leu315Ile
NM_001330210.1:c.643C>A	NP_001317139.1:p.Leu215Ile
NM_001330210.2:c.643C>A	NP_001317139.1:p.Leu215Ile
NM_003611.2:c.1063C>A	NP_003602.1:p.Leu355Ile
ENST00000340096.10:c.1063C>A	ENSP00000344314.6:p.Leu355Ile
ENST00000380550.6:c.943C>A	ENSP00000369923.3:p.Leu315Ile
ENST00000380567.5:c.643C>A	ENSP00000369941.1:p.Leu215Ile
ENST00000380567.6:c.*756C>A	ENSP00000369941.2:n.*756C>A
ENST00000398395.7:c.532C>A	ENSP00000381432.4:p.Leu178Ile
ENST00000398395.8:c.*636C>A	ENSP00000381432.5:n.*636C>A
ENST00000464463.6:n.1226C>A
ENST00000490265.5:n.2038C>A
ENST00000490265.6:n.1592C>A
ENST00000682237.1:c.*623C>A	ENSP00000507121.1:n.*623C>A
ENST00000682562.1:c.*756C>A	ENSP00000507874.1:n.*756C>A
ENST00000682953.1:c.*1790C>A	ENSP00000507878.1:n.*1790C>A
ENST00000683055.1:c.831-3203C>A	ENSP00000508191.1:n.831-3203C>A
ENST00000683065.1:n.352C>A
ENST00000683284.1:c.*1294C>A	ENSP00000507837.1:n.*1294C>A
ENST00000683427.1:c.936-3203C>A	ENSP00000507290.1:n.936-3203C>A
ENST00000683454.1:n.1077C>A
ENST00000683637.1:n.2172C>A
ENST00000683655.1:c.*1277C>A	ENSP00000506770.1:n.*1277C>A
ENST00000683713.1:c.*1294C>A	ENSP00000507797.1:n.*1294C>A
ENST00000684577.1:c.*756C>A	ENSP00000507871.1:n.*756C>A
XM_005274599.2:c.1084C>A	XP_005274656.1:p.Leu362Ile
XM_005274602.2:c.1084C>A	XP_005274659.1:p.Leu362Ile
XM_005274603.2:c.964C>A	XP_005274660.1:p.Leu322Ile
XM_005274604.2:c.943C>A	XP_005274661.1:p.Leu315Ile
XM_005274606.2:c.919C>A	XP_005274663.1:p.Leu307Ile
XM_005274606.4:c.919C>A	XP_005274663.1:p.Leu307Ile
XM_005274607.3:c.643C>A	XP_005274664.1:p.Leu215Ile
XM_011545591.1:c.1084C>A	XP_011543893.1:p.Leu362Ile
XM_011545592.1:c.871C>A	XP_011543894.1:p.Leu291Ile
XM_011545592.3:c.871C>A	XP_011543894.1:p.Leu291Ile
XM_011545593.1:c.1084C>A	XP_011543895.1:p.Leu362Ile
XM_011545594.1:c.742C>A	XP_011543896.1:p.Leu248Ile
XM_011545594.3:c.742C>A	XP_011543896.1:p.Leu248Ile
XM_011545595.1:c.742C>A	XP_011543897.1:p.Leu248Ile
XM_011545596.1:c.1084C>A	XP_011543898.1:p.Leu362Ile
XM_011545597.1:c.643C>A	XP_011543899.1:p.Leu215Ile
XM_011545597.2:c.643C>A	XP_011543899.1:p.Leu215Ile
XM_011545598.1:c.-55+2007C>A	XP_011543900.1:n.-55+2007C>A
XM_017029909.1:c.643C>A	XP_016885398.1:p.Leu215Ile
XM_017029911.1:c.121C>A	XP_016885400.1:p.Leu41Ile
XM_024452468.1:c.-213C>A	XP_024308236.1:n.-213C>A
XM_024452469.1:c.-213C>A	XP_024308237.1:n.-213C>A
XM_024452470.1:c.-213C>A	XP_024308238.1:n.-213C>A
XM_024452471.1:c.-213C>A	XP_024308239.1:n.-213C>A
XR_247288.2:n.1423C>A