Canonical Allele Identifier: CA344046

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13749469A>T , CM000685.2:g.13749469A>T	GRCh38
NC_000023.10:g.13767588A>T , CM000685.1:g.13767588A>T	GRCh37
NC_000023.9:g.13677509A>T	NCBI36
NG_008872.1:g.19757A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*564A>T	ENSP00000369941.2:n.*564A>T
ENST00000398395.8:c.*564A>T	ENSP00000381432.5:n.*564A>T
ENST00000464463.6:n.1154A>T
ENST00000490265.6:n.736A>T
ENST00000682237.1:c.871A>T	ENSP00000507121.1:p.Lys291Ter
ENST00000682562.1:c.*564A>T	ENSP00000507874.1:n.*564A>T
ENST00000682953.1:c.*934A>T	ENSP00000507878.1:n.*934A>T
ENST00000683055.1:c.766A>T	ENSP00000508191.1:p.Lys256Ter
ENST00000683065.1:n.280A>T
ENST00000683284.1:c.*438A>T	ENSP00000507837.1:n.*438A>T
ENST00000683427.1:c.871A>T	ENSP00000507290.1:p.Lys291Ter
ENST00000683454.1:n.885A>T
ENST00000683637.1:n.1316A>T
ENST00000683655.1:c.*421A>T	ENSP00000506770.1:n.*421A>T
ENST00000683713.1:c.*438A>T	ENSP00000507797.1:n.*438A>T
ENST00000684577.1:c.*564A>T	ENSP00000507871.1:n.*564A>T
ENST00000340096.11:c.871A>T MANE Select	ENSP00000344314.6:p.Lys291Ter
ENST00000340096.10:c.871A>T	ENSP00000344314.6:p.Lys291Ter
ENST00000380550.6:c.871A>T	ENSP00000369923.3:p.Lys291Ter
ENST00000380567.5:c.451A>T	ENSP00000369941.1:p.Lys151Ter
ENST00000398395.7:c.460A>T	ENSP00000381432.4:p.Lys154Ter
ENST00000490265.5:n.1182A>T
NM_003611.2:c.871A>T	NP_003602.1:p.Lys291Ter
XM_005274599.2:c.892A>T	XP_005274656.1:p.Lys298Ter
XM_005274602.2:c.892A>T	XP_005274659.1:p.Lys298Ter
XM_005274603.2:c.892A>T	XP_005274660.1:p.Lys298Ter
XM_005274604.2:c.871A>T	XP_005274661.1:p.Lys291Ter
XM_005274606.2:c.727A>T	XP_005274663.1:p.Lys243Ter
XM_005274607.3:c.451A>T	XP_005274664.1:p.Lys151Ter
XM_011545591.1:c.892A>T	XP_011543893.1:p.Lys298Ter
XM_011545592.1:c.679A>T	XP_011543894.1:p.Lys227Ter
XM_011545593.1:c.892A>T	XP_011543895.1:p.Lys298Ter
XM_011545594.1:c.550A>T	XP_011543896.1:p.Lys184Ter
XM_011545595.1:c.550A>T	XP_011543897.1:p.Lys184Ter
XM_011545596.1:c.892A>T	XP_011543898.1:p.Lys298Ter
XM_011545597.1:c.451A>T	XP_011543899.1:p.Lys151Ter
XR_247288.2:n.1231A>T
NM_001330209.1:c.871A>T	NP_001317138.1:p.Lys291Ter
NM_001330210.1:c.451A>T	NP_001317139.1:p.Lys151Ter
XM_005274606.4:c.727A>T	XP_005274663.1:p.Lys243Ter
XM_011545592.3:c.679A>T	XP_011543894.1:p.Lys227Ter
XM_011545594.3:c.550A>T	XP_011543896.1:p.Lys184Ter
XM_011545597.2:c.451A>T	XP_011543899.1:p.Lys151Ter
XM_017029909.1:c.451A>T	XP_016885398.1:p.Lys151Ter
XM_024452468.1:c.-1069A>T	XP_024308236.1:n.-1069A>T
XM_024452469.1:c.-1069A>T	XP_024308237.1:n.-1069A>T
XM_024452470.1:c.-1069A>T	XP_024308238.1:n.-1069A>T
XM_024452471.1:c.-1069A>T	XP_024308239.1:n.-1069A>T
NM_003611.3:c.871A>T MANE Select	NP_003602.1:p.Lys291Ter
NM_001330209.2:c.871A>T	NP_001317138.1:p.Lys291Ter
NM_001330210.2:c.451A>T	NP_001317139.1:p.Lys151Ter