Canonical Allele Identifier: CA10352116

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13768729G>C , CM000685.2:g.13768729G>C	GRCh38
NC_000023.10:g.13786848G>C , CM000685.1:g.13786848G>C	GRCh37
NC_000023.9:g.13696769G>C	NCBI36
NG_008872.1:g.39017G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.2940G>C MANE Select	NP_003602.1:p.Lys980Asn
ENST00000340096.11:c.2940G>C MANE Select	ENSP00000344314.6:p.Lys980Asn
NM_001330209.1:c.2820G>C	NP_001317138.1:p.Lys940Asn
NM_001330209.2:c.2820G>C	NP_001317138.1:p.Lys940Asn
NM_001330210.1:c.2520G>C	NP_001317139.1:p.Lys840Asn
NM_001330210.2:c.2520G>C	NP_001317139.1:p.Lys840Asn
NM_003611.2:c.2940G>C	NP_003602.1:p.Lys980Asn
ENST00000340096.10:c.2940G>C	ENSP00000344314.6:p.Lys980Asn
ENST00000380550.6:c.2820G>C	ENSP00000369923.3:p.Lys940Asn
ENST00000380567.5:c.2520G>C	ENSP00000369941.1:p.Lys840Asn
ENST00000380567.6:c.*2633G>C	ENSP00000369941.2:n.*2633G>C
ENST00000398395.7:c.*1280G>C	ENSP00000381432.4:n.*1280G>C
ENST00000398395.8:c.*2401G>C	ENSP00000381432.5:n.*2401G>C
ENST00000464463.5:n.650G>C
ENST00000464463.6:n.4769G>C
ENST00000474705.1:n.332G>C
ENST00000490265.5:n.3915G>C
ENST00000490265.6:n.3469G>C
ENST00000682237.1:c.*2500G>C	ENSP00000507121.1:n.*2500G>C
ENST00000682562.1:c.*4231G>C	ENSP00000507874.1:n.*4231G>C
ENST00000682953.1:c.*3556G>C	ENSP00000507878.1:n.*3556G>C
ENST00000683055.1:c.*5072G>C	ENSP00000508191.1:n.*5072G>C
ENST00000683284.1:c.*3171G>C	ENSP00000507837.1:n.*3171G>C
ENST00000683427.1:c.*2366G>C	ENSP00000507290.1:n.*2366G>C
ENST00000683454.1:n.2954G>C
ENST00000683637.1:n.4049G>C
ENST00000683655.1:c.*3154G>C	ENSP00000506770.1:n.*3154G>C
ENST00000683713.1:c.*3171G>C	ENSP00000507797.1:n.*3171G>C
ENST00000684577.1:c.*2526G>C	ENSP00000507871.1:n.*2526G>C
XM_005274599.2:c.2961G>C	XP_005274656.1:p.Lys987Asn
XM_005274602.2:c.2850G>C	XP_005274659.1:p.Lys950Asn
XM_005274603.2:c.2841G>C	XP_005274660.1:p.Lys947Asn
XM_005274604.2:c.2820G>C	XP_005274661.1:p.Lys940Asn
XM_005274606.2:c.2796G>C	XP_005274663.1:p.Lys932Asn
XM_005274606.4:c.2796G>C	XP_005274663.1:p.Lys932Asn
XM_005274607.3:c.2520G>C	XP_005274664.1:p.Lys840Asn
XM_011545591.1:c.2961G>C	XP_011543893.1:p.Lys987Asn
XM_011545592.1:c.2748G>C	XP_011543894.1:p.Lys916Asn
XM_011545592.3:c.2748G>C	XP_011543894.1:p.Lys916Asn
XM_011545594.1:c.2619G>C	XP_011543896.1:p.Lys873Asn
XM_011545594.3:c.2619G>C	XP_011543896.1:p.Lys873Asn
XM_011545595.1:c.2619G>C	XP_011543897.1:p.Lys873Asn
XM_011545597.1:c.2409G>C	XP_011543899.1:p.Lys803Asn
XM_011545597.2:c.2409G>C	XP_011543899.1:p.Lys803Asn
XM_011545598.1:c.1665G>C	XP_011543900.1:p.Lys555Asn
XM_017029909.1:c.2520G>C	XP_016885398.1:p.Lys840Asn
XM_017029911.1:c.1998G>C	XP_016885400.1:p.Lys666Asn
XM_024452468.1:c.1665G>C	XP_024308236.1:p.Lys555Asn
XM_024452469.1:c.1665G>C	XP_024308237.1:p.Lys555Asn
XM_024452470.1:c.1665G>C	XP_024308238.1:p.Lys555Asn
XM_024452471.1:c.1554G>C	XP_024308239.1:p.Lys518Asn
XR_247288.2:n.3142G>C