Canonical Allele Identifier: CA412343428

Gene: OFD1

Linked Data

• COSMIC: COSM1682407
• MyVariant Identifiers: chrX:g.13776527G>T (hg19) ; chrX:g.13758408G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758408G>T , CM000685.2:g.13758408G>T	GRCh38
NC_000023.10:g.13776527G>T , CM000685.1:g.13776527G>T	GRCh37
NC_000023.9:g.13686448G>T	NCBI36
NG_008872.1:g.28696G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1307G>T	ENSP00000369941.2:n.*1307G>T
ENST00000398395.8:c.*1115+618G>T	ENSP00000381432.5:n.*1115+618G>T
ENST00000464463.6:n.1777G>T
ENST00000490265.6:n.2143G>T
ENST00000682237.1:c.*1174G>T	ENSP00000507121.1:n.*1174G>T
ENST00000682562.1:c.*3016G>T	ENSP00000507874.1:n.*3016G>T
ENST00000682953.1:c.*2341G>T	ENSP00000507878.1:n.*2341G>T
ENST00000683055.1:c.*929G>T	ENSP00000508191.1:n.*929G>T
ENST00000683284.1:c.*1845G>T	ENSP00000507837.1:n.*1845G>T
ENST00000683427.1:c.*311+618G>T	ENSP00000507290.1:n.*311+618G>T
ENST00000683454.1:n.1628G>T
ENST00000683637.1:n.2723G>T
ENST00000683655.1:c.*1828G>T	ENSP00000506770.1:n.*1828G>T
ENST00000683713.1:c.*1845G>T	ENSP00000507797.1:n.*1845G>T
ENST00000684577.1:c.*1311G>T	ENSP00000507871.1:n.*1311G>T
ENST00000340096.11:c.1614G>T MANE Select	ENSP00000344314.6:p.Gln538His
ENST00000340096.10:c.1614G>T	ENSP00000344314.6:p.Gln538His
ENST00000380550.6:c.1494G>T	ENSP00000369923.3:p.Gln498His
ENST00000380567.5:c.1194G>T	ENSP00000369941.1:p.Gln398His
ENST00000398395.7:c.1011+618G>T	ENSP00000381432.4:n.1011+618G>T
ENST00000490265.5:n.2589G>T
NM_003611.2:c.1614G>T	NP_003602.1:p.Gln538His
XM_005274599.2:c.1635G>T	XP_005274656.1:p.Gln545His
XM_005274602.2:c.1635G>T	XP_005274659.1:p.Gln545His
XM_005274603.2:c.1515G>T	XP_005274660.1:p.Gln505His
XM_005274604.2:c.1494G>T	XP_005274661.1:p.Gln498His
XM_005274606.2:c.1470G>T	XP_005274663.1:p.Gln490His
XM_005274607.3:c.1194G>T	XP_005274664.1:p.Gln398His
XM_011545591.1:c.1635G>T	XP_011543893.1:p.Gln545His
XM_011545592.1:c.1422G>T	XP_011543894.1:p.Gln474His
XM_011545593.1:c.1635G>T	XP_011543895.1:p.Gln545His
XM_011545594.1:c.1293G>T	XP_011543896.1:p.Gln431His
XM_011545595.1:c.1293G>T	XP_011543897.1:p.Gln431His
XM_011545596.1:c.1635G>T	XP_011543898.1:p.Gln545His
XM_011545597.1:c.1194G>T	XP_011543899.1:p.Gln398His
XM_011545598.1:c.339G>T	XP_011543900.1:p.Gln113His
XR_247288.2:n.1974G>T
NM_001330209.1:c.1494G>T	NP_001317138.1:p.Gln498His
NM_001330210.1:c.1194G>T	NP_001317139.1:p.Gln398His
XM_005274606.4:c.1470G>T	XP_005274663.1:p.Gln490His
XM_011545592.3:c.1422G>T	XP_011543894.1:p.Gln474His
XM_011545594.3:c.1293G>T	XP_011543896.1:p.Gln431His
XM_011545597.2:c.1194G>T	XP_011543899.1:p.Gln398His
XM_017029909.1:c.1194G>T	XP_016885398.1:p.Gln398His
XM_017029911.1:c.672G>T	XP_016885400.1:p.Gln224His
XM_024452468.1:c.339G>T	XP_024308236.1:p.Gln113His
XM_024452469.1:c.339G>T	XP_024308237.1:p.Gln113His
XM_024452470.1:c.339G>T	XP_024308238.1:p.Gln113His
XM_024452471.1:c.339G>T	XP_024308239.1:p.Gln113His
NM_003611.3:c.1614G>T MANE Select	NP_003602.1:p.Gln538His
NM_001330209.2:c.1494G>T	NP_001317138.1:p.Gln498His
NM_001330210.2:c.1194G>T	NP_001317139.1:p.Gln398His