Canonical Allele Identifier: CA412343396

Gene: OFD1

Linked Data

• COSMIC: COSM1138089
• MyVariant Identifiers: chrX:g.13776512G>T (hg19) ; chrX:g.13758393G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758393G>T , CM000685.2:g.13758393G>T	GRCh38
NC_000023.10:g.13776512G>T , CM000685.1:g.13776512G>T	GRCh37
NC_000023.9:g.13686433G>T	NCBI36
NG_008872.1:g.28681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1292G>T	ENSP00000369941.2:n.*1292G>T
ENST00000398395.8:c.*1115+603G>T	ENSP00000381432.5:n.*1115+603G>T
ENST00000464463.6:n.1762G>T
ENST00000490265.6:n.2128G>T
ENST00000682237.1:c.*1159G>T	ENSP00000507121.1:n.*1159G>T
ENST00000682562.1:c.*3001G>T	ENSP00000507874.1:n.*3001G>T
ENST00000682953.1:c.*2326G>T	ENSP00000507878.1:n.*2326G>T
ENST00000683055.1:c.*914G>T	ENSP00000508191.1:n.*914G>T
ENST00000683284.1:c.*1830G>T	ENSP00000507837.1:n.*1830G>T
ENST00000683427.1:c.*311+603G>T	ENSP00000507290.1:n.*311+603G>T
ENST00000683454.1:n.1613G>T
ENST00000683637.1:n.2708G>T
ENST00000683655.1:c.*1813G>T	ENSP00000506770.1:n.*1813G>T
ENST00000683713.1:c.*1830G>T	ENSP00000507797.1:n.*1830G>T
ENST00000684577.1:c.*1296G>T	ENSP00000507871.1:n.*1296G>T
ENST00000340096.11:c.1599G>T MANE Select	ENSP00000344314.6:p.Lys533Asn
ENST00000340096.10:c.1599G>T	ENSP00000344314.6:p.Lys533Asn
ENST00000380550.6:c.1479G>T	ENSP00000369923.3:p.Lys493Asn
ENST00000380567.5:c.1179G>T	ENSP00000369941.1:p.Lys393Asn
ENST00000398395.7:c.1011+603G>T	ENSP00000381432.4:n.1011+603G>T
ENST00000490265.5:n.2574G>T
NM_003611.2:c.1599G>T	NP_003602.1:p.Lys533Asn
XM_005274599.2:c.1620G>T	XP_005274656.1:p.Lys540Asn
XM_005274602.2:c.1620G>T	XP_005274659.1:p.Lys540Asn
XM_005274603.2:c.1500G>T	XP_005274660.1:p.Lys500Asn
XM_005274604.2:c.1479G>T	XP_005274661.1:p.Lys493Asn
XM_005274606.2:c.1455G>T	XP_005274663.1:p.Lys485Asn
XM_005274607.3:c.1179G>T	XP_005274664.1:p.Lys393Asn
XM_011545591.1:c.1620G>T	XP_011543893.1:p.Lys540Asn
XM_011545592.1:c.1407G>T	XP_011543894.1:p.Lys469Asn
XM_011545593.1:c.1620G>T	XP_011543895.1:p.Lys540Asn
XM_011545594.1:c.1278G>T	XP_011543896.1:p.Lys426Asn
XM_011545595.1:c.1278G>T	XP_011543897.1:p.Lys426Asn
XM_011545596.1:c.1620G>T	XP_011543898.1:p.Lys540Asn
XM_011545597.1:c.1179G>T	XP_011543899.1:p.Lys393Asn
XM_011545598.1:c.324G>T	XP_011543900.1:p.Lys108Asn
XR_247288.2:n.1959G>T
NM_001330209.1:c.1479G>T	NP_001317138.1:p.Lys493Asn
NM_001330210.1:c.1179G>T	NP_001317139.1:p.Lys393Asn
XM_005274606.4:c.1455G>T	XP_005274663.1:p.Lys485Asn
XM_011545592.3:c.1407G>T	XP_011543894.1:p.Lys469Asn
XM_011545594.3:c.1278G>T	XP_011543896.1:p.Lys426Asn
XM_011545597.2:c.1179G>T	XP_011543899.1:p.Lys393Asn
XM_017029909.1:c.1179G>T	XP_016885398.1:p.Lys393Asn
XM_017029911.1:c.657G>T	XP_016885400.1:p.Lys219Asn
XM_024452468.1:c.324G>T	XP_024308236.1:p.Lys108Asn
XM_024452469.1:c.324G>T	XP_024308237.1:p.Lys108Asn
XM_024452470.1:c.324G>T	XP_024308238.1:p.Lys108Asn
XM_024452471.1:c.324G>T	XP_024308239.1:p.Lys108Asn
NM_003611.3:c.1599G>T MANE Select	NP_003602.1:p.Lys533Asn
NM_001330209.2:c.1479G>T	NP_001317138.1:p.Lys493Asn
NM_001330210.2:c.1179G>T	NP_001317139.1:p.Lys393Asn