Canonical Allele Identifier: CA412344890

Gene: OFD1

Linked Data

• MyVariant Identifiers: chrX:g.13779215T>C (hg19) ; chrX:g.13761096T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13761096T>C , CM000685.2:g.13761096T>C	GRCh38
NC_000023.10:g.13779215T>C , CM000685.1:g.13779215T>C	GRCh37
NC_000023.9:g.13689136T>C	NCBI36
NG_008872.1:g.31384T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1965T>C	ENSP00000369941.2:n.*1965T>C
ENST00000398395.8:c.*1733T>C	ENSP00000381432.5:n.*1733T>C
ENST00000464463.6:n.4101T>C
ENST00000490265.6:n.2801T>C
ENST00000682237.1:c.*1832T>C	ENSP00000507121.1:n.*1832T>C
ENST00000682562.1:c.*3674T>C	ENSP00000507874.1:n.*3674T>C
ENST00000682953.1:c.*2999T>C	ENSP00000507878.1:n.*2999T>C
ENST00000683055.1:c.*3253T>C	ENSP00000508191.1:n.*3253T>C
ENST00000683284.1:c.*2503T>C	ENSP00000507837.1:n.*2503T>C
ENST00000683427.1:c.*929T>C	ENSP00000507290.1:n.*929T>C
ENST00000683454.1:n.2286T>C
ENST00000683637.1:n.3381T>C
ENST00000683655.1:c.*2486T>C	ENSP00000506770.1:n.*2486T>C
ENST00000683713.1:c.*2503T>C	ENSP00000507797.1:n.*2503T>C
ENST00000684577.1:c.*1969T>C	ENSP00000507871.1:n.*1969T>C
ENST00000340096.11:c.2272T>C MANE Select	ENSP00000344314.6:p.Ser758Pro
ENST00000340096.10:c.2272T>C	ENSP00000344314.6:p.Ser758Pro
ENST00000380550.6:c.2152T>C	ENSP00000369923.3:p.Ser718Pro
ENST00000380567.5:c.1852T>C	ENSP00000369941.1:p.Ser618Pro
ENST00000398395.7:c.*612T>C	ENSP00000381432.4:n.*612T>C
ENST00000464463.5:n.93T>C
ENST00000490265.5:n.3247T>C
NM_003611.2:c.2272T>C	NP_003602.1:p.Ser758Pro
XM_005274599.2:c.2293T>C	XP_005274656.1:p.Ser765Pro
XM_005274602.2:c.2293T>C	XP_005274659.1:p.Ser765Pro
XM_005274603.2:c.2173T>C	XP_005274660.1:p.Ser725Pro
XM_005274604.2:c.2152T>C	XP_005274661.1:p.Ser718Pro
XM_005274606.2:c.2128T>C	XP_005274663.1:p.Ser710Pro
XM_005274607.3:c.1852T>C	XP_005274664.1:p.Ser618Pro
XM_011545591.1:c.2293T>C	XP_011543893.1:p.Ser765Pro
XM_011545592.1:c.2080T>C	XP_011543894.1:p.Ser694Pro
XM_011545593.1:c.2293T>C	XP_011543895.1:p.Ser765Pro
XM_011545594.1:c.1951T>C	XP_011543896.1:p.Ser651Pro
XM_011545595.1:c.1951T>C	XP_011543897.1:p.Ser651Pro
XM_011545596.1:c.2293T>C	XP_011543898.1:p.Ser765Pro
XM_011545597.1:c.1852T>C	XP_011543899.1:p.Ser618Pro
XM_011545598.1:c.997T>C	XP_011543900.1:p.Ser333Pro
XR_247288.2:n.2632T>C
NM_001330209.1:c.2152T>C	NP_001317138.1:p.Ser718Pro
NM_001330210.1:c.1852T>C	NP_001317139.1:p.Ser618Pro
XM_005274606.4:c.2128T>C	XP_005274663.1:p.Ser710Pro
XM_011545592.3:c.2080T>C	XP_011543894.1:p.Ser694Pro
XM_011545594.3:c.1951T>C	XP_011543896.1:p.Ser651Pro
XM_011545597.2:c.1852T>C	XP_011543899.1:p.Ser618Pro
XM_017029909.1:c.1852T>C	XP_016885398.1:p.Ser618Pro
XM_017029911.1:c.1330T>C	XP_016885400.1:p.Ser444Pro
XM_024452468.1:c.997T>C	XP_024308236.1:p.Ser333Pro
XM_024452469.1:c.997T>C	XP_024308237.1:p.Ser333Pro
XM_024452470.1:c.997T>C	XP_024308238.1:p.Ser333Pro
XM_024452471.1:c.997T>C	XP_024308239.1:p.Ser333Pro
NM_003611.3:c.2272T>C MANE Select	NP_003602.1:p.Ser758Pro
NM_001330209.2:c.2152T>C	NP_001317138.1:p.Ser718Pro
NM_001330210.2:c.1852T>C	NP_001317139.1:p.Ser618Pro