Canonical Allele Identifier: CA10351984

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13761196C>T , CM000685.2:g.13761196C>T	GRCh38
NC_000023.10:g.13779315C>T , CM000685.1:g.13779315C>T	GRCh37
NC_000023.9:g.13689236C>T	NCBI36
NG_008872.1:g.31484C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2372C>T MANE Select	NP_003602.1:p.Pro791Leu
ENST00000340096.11:c.2372C>T MANE Select	ENSP00000344314.6:p.Pro791Leu
NM_001330209.1:c.2252C>T	NP_001317138.1:p.Pro751Leu
NM_001330209.2:c.2252C>T	NP_001317138.1:p.Pro751Leu
NM_001330210.1:c.1952C>T	NP_001317139.1:p.Pro651Leu
NM_001330210.2:c.1952C>T	NP_001317139.1:p.Pro651Leu
NM_003611.2:c.2372C>T	NP_003602.1:p.Pro791Leu
ENST00000340096.10:c.2372C>T	ENSP00000344314.6:p.Pro791Leu
ENST00000380550.6:c.2252C>T	ENSP00000369923.3:p.Pro751Leu
ENST00000380567.5:c.1952C>T	ENSP00000369941.1:p.Pro651Leu
ENST00000380567.6:c.*2065C>T	ENSP00000369941.2:n.*2065C>T
ENST00000398395.7:c.*712C>T	ENSP00000381432.4:n.*712C>T
ENST00000398395.8:c.*1833C>T	ENSP00000381432.5:n.*1833C>T
ENST00000464463.5:n.193C>T
ENST00000464463.6:n.4201C>T
ENST00000490265.5:n.3347C>T
ENST00000490265.6:n.2901C>T
ENST00000682237.1:c.*1932C>T	ENSP00000507121.1:n.*1932C>T
ENST00000682562.1:c.*3774C>T	ENSP00000507874.1:n.*3774C>T
ENST00000682953.1:c.*3099C>T	ENSP00000507878.1:n.*3099C>T
ENST00000683055.1:c.*3353C>T	ENSP00000508191.1:n.*3353C>T
ENST00000683284.1:c.*2603C>T	ENSP00000507837.1:n.*2603C>T
ENST00000683427.1:c.*1029C>T	ENSP00000507290.1:n.*1029C>T
ENST00000683454.1:n.2386C>T
ENST00000683637.1:n.3481C>T
ENST00000683655.1:c.*2586C>T	ENSP00000506770.1:n.*2586C>T
ENST00000683713.1:c.*2603C>T	ENSP00000507797.1:n.*2603C>T
ENST00000684577.1:c.*2069C>T	ENSP00000507871.1:n.*2069C>T
XM_005274599.2:c.2393C>T	XP_005274656.1:p.Pro798Leu
XM_005274602.2:c.2393C>T	XP_005274659.1:p.Pro798Leu
XM_005274603.2:c.2273C>T	XP_005274660.1:p.Pro758Leu
XM_005274604.2:c.2252C>T	XP_005274661.1:p.Pro751Leu
XM_005274606.2:c.2228C>T	XP_005274663.1:p.Pro743Leu
XM_005274606.4:c.2228C>T	XP_005274663.1:p.Pro743Leu
XM_005274607.3:c.1952C>T	XP_005274664.1:p.Pro651Leu
XM_011545591.1:c.2393C>T	XP_011543893.1:p.Pro798Leu
XM_011545592.1:c.2180C>T	XP_011543894.1:p.Pro727Leu
XM_011545592.3:c.2180C>T	XP_011543894.1:p.Pro727Leu
XM_011545593.1:c.2393C>T	XP_011543895.1:p.Pro798Leu
XM_011545594.1:c.2051C>T	XP_011543896.1:p.Pro684Leu
XM_011545594.3:c.2051C>T	XP_011543896.1:p.Pro684Leu
XM_011545595.1:c.2051C>T	XP_011543897.1:p.Pro684Leu
XM_011545596.1:c.2393C>T	XP_011543898.1:p.Pro798Leu
XM_011545597.1:c.1952C>T	XP_011543899.1:p.Pro651Leu
XM_011545597.2:c.1952C>T	XP_011543899.1:p.Pro651Leu
XM_011545598.1:c.1097C>T	XP_011543900.1:p.Pro366Leu
XM_017029909.1:c.1952C>T	XP_016885398.1:p.Pro651Leu
XM_017029911.1:c.1430C>T	XP_016885400.1:p.Pro477Leu
XM_024452468.1:c.1097C>T	XP_024308236.1:p.Pro366Leu
XM_024452469.1:c.1097C>T	XP_024308237.1:p.Pro366Leu
XM_024452470.1:c.1097C>T	XP_024308238.1:p.Pro366Leu
XM_024452471.1:c.1097C>T	XP_024308239.1:p.Pro366Leu
XR_247288.2:n.2732C>T