Canonical Allele Identifier: CA343958

Gene: OFD1

Linked Data

• ClinVar Variation Id: 41066
• ClinVar RCV Id: RCV001383219 ; RCV002496509
• dbSNP Id: rs312262810
• COSMIC: COSM5579177 ; COSM5579178
• MyVariant Identifiers: chrX:g.13754606C>T (hg19) ; chrX:g.13736487C>T (hg38)
• PubMed: PMID:20301367

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13736487C>T , CM000685.2:g.13736487C>T	GRCh38
NC_000023.10:g.13754606C>T , CM000685.1:g.13754606C>T	GRCh37
NC_000023.9:g.13664527C>T	NCBI36
NG_008872.1:g.6775C>T
NG_011555.1:g.3137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.121C>T	ENSP00000369941.2:p.Arg41Ter
ENST00000398395.8:c.121C>T	ENSP00000381432.5:p.Arg41Ter
ENST00000464463.6:n.404C>T
ENST00000485052.6:n.614C>T
ENST00000490265.6:n.93C>T
ENST00000682237.1:c.121C>T	ENSP00000507121.1:p.Arg41Ter
ENST00000682562.1:c.121C>T	ENSP00000507874.1:p.Arg41Ter
ENST00000682953.1:c.*184C>T	ENSP00000507878.1:n.*184C>T
ENST00000683055.1:c.121C>T	ENSP00000508191.1:p.Arg41Ter
ENST00000683284.1:c.112-169C>T	ENSP00000507837.1:n.112-169C>T
ENST00000683427.1:c.121C>T	ENSP00000507290.1:p.Arg41Ter
ENST00000683454.1:n.10C>T
ENST00000683655.1:c.121C>T	ENSP00000506770.1:p.Arg41Ter
ENST00000683713.1:c.121C>T	ENSP00000507797.1:p.Arg41Ter
ENST00000684401.1:n.512C>T
ENST00000684577.1:c.121C>T	ENSP00000507871.1:p.Arg41Ter
ENST00000340096.11:c.121C>T MANE Select	ENSP00000344314.6:p.Arg41Ter
ENST00000340096.10:c.121C>T	ENSP00000344314.6:p.Arg41Ter
ENST00000380550.6:c.121C>T	ENSP00000369923.3:p.Arg41Ter
ENST00000380567.5:c.-425C>T	ENSP00000369941.1:n.-425C>T
ENST00000398395.7:c.-414C>T	ENSP00000381432.4:n.-414C>T
ENST00000485052.5:n.625C>T
ENST00000490265.5:n.432C>T
NM_003611.2:c.121C>T	NP_003602.1:p.Arg41Ter
XM_005274599.2:c.142C>T	XP_005274656.1:p.Arg48Ter
XM_005274602.2:c.142C>T	XP_005274659.1:p.Arg48Ter
XM_005274603.2:c.142C>T	XP_005274660.1:p.Arg48Ter
XM_005274604.2:c.121C>T	XP_005274661.1:p.Arg41Ter
XM_005274606.2:c.-24C>T	XP_005274663.1:n.-24C>T
XM_011545591.1:c.142C>T	XP_011543893.1:p.Arg48Ter
XM_011545592.1:c.98-169C>T	XP_011543894.1:n.98-169C>T
XM_011545593.1:c.142C>T	XP_011543895.1:p.Arg48Ter
XM_011545594.1:c.-32-169C>T	XP_011543896.1:n.-32-169C>T
XM_011545595.1:c.-32-169C>T	XP_011543897.1:n.-32-169C>T
XM_011545596.1:c.142C>T	XP_011543898.1:p.Arg48Ter
XM_011545597.1:c.-425C>T	XP_011543899.1:n.-425C>T
XR_247288.2:n.481C>T
NM_001330209.1:c.121C>T	NP_001317138.1:p.Arg41Ter
NM_001330210.1:c.-425C>T	NP_001317139.1:n.-425C>T
XM_005274606.4:c.-24C>T	XP_005274663.1:n.-24C>T
XM_011545592.3:c.98-169C>T	XP_011543894.1:n.98-169C>T
XM_011545594.3:c.-32-169C>T	XP_011543896.1:n.-32-169C>T
XM_011545597.2:c.-425C>T	XP_011543899.1:n.-425C>T
XM_017029909.1:c.-256-169C>T	XP_016885398.1:n.-256-169C>T
XM_024452468.1:c.-1819C>T	XP_024308236.1:n.-1819C>T
XM_024452469.1:c.-1819C>T	XP_024308237.1:n.-1819C>T
XM_024452470.1:c.-1650-169C>T	XP_024308238.1:n.-1650-169C>T
XM_024452471.1:c.-1819C>T	XP_024308239.1:n.-1819C>T
NM_003611.3:c.121C>T MANE Select	NP_003602.1:p.Arg41Ter
NM_001330209.2:c.121C>T	NP_001317138.1:p.Arg41Ter
NM_001330210.2:c.-425C>T	NP_001317139.1:n.-425C>T