Canonical Allele Identifier: CA412343875

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13760269G>C , CM000685.2:g.13760269G>C	GRCh38
NC_000023.10:g.13778388G>C , CM000685.1:g.13778388G>C	GRCh37
NC_000023.9:g.13688309G>C	NCBI36
NG_008872.1:g.30557G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.1809G>C MANE Select	NP_003602.1:p.Met603Ile
ENST00000340096.11:c.1809G>C MANE Select	ENSP00000344314.6:p.Met603Ile
NM_001330209.1:c.1689G>C	NP_001317138.1:p.Met563Ile
NM_001330209.2:c.1689G>C	NP_001317138.1:p.Met563Ile
NM_001330210.1:c.1389G>C	NP_001317139.1:p.Met463Ile
NM_001330210.2:c.1389G>C	NP_001317139.1:p.Met463Ile
NM_003611.2:c.1809G>C	NP_003602.1:p.Met603Ile
ENST00000340096.10:c.1809G>C	ENSP00000344314.6:p.Met603Ile
ENST00000380550.6:c.1689G>C	ENSP00000369923.3:p.Met563Ile
ENST00000380567.5:c.1389G>C	ENSP00000369941.1:p.Met463Ile
ENST00000380567.6:c.*1502G>C	ENSP00000369941.2:n.*1502G>C
ENST00000398395.7:c.*149G>C	ENSP00000381432.4:n.*149G>C
ENST00000398395.8:c.*1270G>C	ENSP00000381432.5:n.*1270G>C
ENST00000464463.6:n.3638G>C
ENST00000490265.5:n.2784G>C
ENST00000490265.6:n.2338G>C
ENST00000682237.1:c.*1369G>C	ENSP00000507121.1:n.*1369G>C
ENST00000682562.1:c.*3211G>C	ENSP00000507874.1:n.*3211G>C
ENST00000682953.1:c.*2536G>C	ENSP00000507878.1:n.*2536G>C
ENST00000683055.1:c.*2790G>C	ENSP00000508191.1:n.*2790G>C
ENST00000683284.1:c.*2040G>C	ENSP00000507837.1:n.*2040G>C
ENST00000683427.1:c.*466G>C	ENSP00000507290.1:n.*466G>C
ENST00000683454.1:n.1823G>C
ENST00000683637.1:n.2918G>C
ENST00000683655.1:c.*2023G>C	ENSP00000506770.1:n.*2023G>C
ENST00000683713.1:c.*2040G>C	ENSP00000507797.1:n.*2040G>C
ENST00000684577.1:c.*1506G>C	ENSP00000507871.1:n.*1506G>C
XM_005274599.2:c.1830G>C	XP_005274656.1:p.Met610Ile
XM_005274602.2:c.1830G>C	XP_005274659.1:p.Met610Ile
XM_005274603.2:c.1710G>C	XP_005274660.1:p.Met570Ile
XM_005274604.2:c.1689G>C	XP_005274661.1:p.Met563Ile
XM_005274606.2:c.1665G>C	XP_005274663.1:p.Met555Ile
XM_005274606.4:c.1665G>C	XP_005274663.1:p.Met555Ile
XM_005274607.3:c.1389G>C	XP_005274664.1:p.Met463Ile
XM_011545591.1:c.1830G>C	XP_011543893.1:p.Met610Ile
XM_011545592.1:c.1617G>C	XP_011543894.1:p.Met539Ile
XM_011545592.3:c.1617G>C	XP_011543894.1:p.Met539Ile
XM_011545593.1:c.1830G>C	XP_011543895.1:p.Met610Ile
XM_011545594.1:c.1488G>C	XP_011543896.1:p.Met496Ile
XM_011545594.3:c.1488G>C	XP_011543896.1:p.Met496Ile
XM_011545595.1:c.1488G>C	XP_011543897.1:p.Met496Ile
XM_011545596.1:c.1830G>C	XP_011543898.1:p.Met610Ile
XM_011545597.1:c.1389G>C	XP_011543899.1:p.Met463Ile
XM_011545597.2:c.1389G>C	XP_011543899.1:p.Met463Ile
XM_011545598.1:c.534G>C	XP_011543900.1:p.Met178Ile
XM_017029909.1:c.1389G>C	XP_016885398.1:p.Met463Ile
XM_017029911.1:c.867G>C	XP_016885400.1:p.Met289Ile
XM_024452468.1:c.534G>C	XP_024308236.1:p.Met178Ile
XM_024452469.1:c.534G>C	XP_024308237.1:p.Met178Ile
XM_024452470.1:c.534G>C	XP_024308238.1:p.Met178Ile
XM_024452471.1:c.534G>C	XP_024308239.1:p.Met178Ile
XR_247288.2:n.2169G>C