Canonical Allele Identifier: CA412344522

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13760561C>T , CM000685.2:g.13760561C>T	GRCh38
NC_000023.10:g.13778680C>T , CM000685.1:g.13778680C>T	GRCh37
NC_000023.9:g.13688601C>T	NCBI36
NG_008872.1:g.30849C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2101C>T MANE Select	NP_003602.1:p.Gln701Ter
ENST00000340096.11:c.2101C>T MANE Select	ENSP00000344314.6:p.Gln701Ter
NM_001330209.1:c.1981C>T	NP_001317138.1:p.Gln661Ter
NM_001330209.2:c.1981C>T	NP_001317138.1:p.Gln661Ter
NM_001330210.1:c.1681C>T	NP_001317139.1:p.Gln561Ter
NM_001330210.2:c.1681C>T	NP_001317139.1:p.Gln561Ter
NM_003611.2:c.2101C>T	NP_003602.1:p.Gln701Ter
ENST00000340096.10:c.2101C>T	ENSP00000344314.6:p.Gln701Ter
ENST00000380550.6:c.1981C>T	ENSP00000369923.3:p.Gln661Ter
ENST00000380567.5:c.1681C>T	ENSP00000369941.1:p.Gln561Ter
ENST00000380567.6:c.*1794C>T	ENSP00000369941.2:n.*1794C>T
ENST00000398395.7:c.*441C>T	ENSP00000381432.4:n.*441C>T
ENST00000398395.8:c.*1562C>T	ENSP00000381432.5:n.*1562C>T
ENST00000464463.6:n.3930C>T
ENST00000490265.5:n.3076C>T
ENST00000490265.6:n.2630C>T
ENST00000682237.1:c.*1661C>T	ENSP00000507121.1:n.*1661C>T
ENST00000682562.1:c.*3503C>T	ENSP00000507874.1:n.*3503C>T
ENST00000682953.1:c.*2828C>T	ENSP00000507878.1:n.*2828C>T
ENST00000683055.1:c.*3082C>T	ENSP00000508191.1:n.*3082C>T
ENST00000683284.1:c.*2332C>T	ENSP00000507837.1:n.*2332C>T
ENST00000683427.1:c.*758C>T	ENSP00000507290.1:n.*758C>T
ENST00000683454.1:n.2115C>T
ENST00000683637.1:n.3210C>T
ENST00000683655.1:c.*2315C>T	ENSP00000506770.1:n.*2315C>T
ENST00000683713.1:c.*2332C>T	ENSP00000507797.1:n.*2332C>T
ENST00000684577.1:c.*1798C>T	ENSP00000507871.1:n.*1798C>T
XM_005274599.2:c.2122C>T	XP_005274656.1:p.Gln708Ter
XM_005274602.2:c.2122C>T	XP_005274659.1:p.Gln708Ter
XM_005274603.2:c.2002C>T	XP_005274660.1:p.Gln668Ter
XM_005274604.2:c.1981C>T	XP_005274661.1:p.Gln661Ter
XM_005274606.2:c.1957C>T	XP_005274663.1:p.Gln653Ter
XM_005274606.4:c.1957C>T	XP_005274663.1:p.Gln653Ter
XM_005274607.3:c.1681C>T	XP_005274664.1:p.Gln561Ter
XM_011545591.1:c.2122C>T	XP_011543893.1:p.Gln708Ter
XM_011545592.1:c.1909C>T	XP_011543894.1:p.Gln637Ter
XM_011545592.3:c.1909C>T	XP_011543894.1:p.Gln637Ter
XM_011545593.1:c.2122C>T	XP_011543895.1:p.Gln708Ter
XM_011545594.1:c.1780C>T	XP_011543896.1:p.Gln594Ter
XM_011545594.3:c.1780C>T	XP_011543896.1:p.Gln594Ter
XM_011545595.1:c.1780C>T	XP_011543897.1:p.Gln594Ter
XM_011545596.1:c.2122C>T	XP_011543898.1:p.Gln708Ter
XM_011545597.1:c.1681C>T	XP_011543899.1:p.Gln561Ter
XM_011545597.2:c.1681C>T	XP_011543899.1:p.Gln561Ter
XM_011545598.1:c.826C>T	XP_011543900.1:p.Gln276Ter
XM_017029909.1:c.1681C>T	XP_016885398.1:p.Gln561Ter
XM_017029911.1:c.1159C>T	XP_016885400.1:p.Gln387Ter
XM_024452468.1:c.826C>T	XP_024308236.1:p.Gln276Ter
XM_024452469.1:c.826C>T	XP_024308237.1:p.Gln276Ter
XM_024452470.1:c.826C>T	XP_024308238.1:p.Gln276Ter
XM_024452471.1:c.826C>T	XP_024308239.1:p.Gln276Ter
XR_247288.2:n.2461C>T