Canonical Allele Identifier: CA1153786468

Gene: C1orf167 MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11787938T= , CM000663.2:g.11787938T=	GRCh38
NC_000001.10:g.11847995T= , CM000663.1:g.11847995T=	GRCh37
NC_000001.9:g.11770582T=	NCBI36
NG_013351.1:g.23166A= , LRG_726:g.23166A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433342.6:c.3253T= (C1orf167)	ENSP00000414909.3:p.Trp1085=
ENST00000688073.1:c.3739T= (C1orf167) MANE Select	ENSP00000510540.1:p.Trp1247=
ENST00000376585.6:c.*2742A= (MTHFR)	ENSP00000365770.1:n.*2742A=
ENST00000376590.9:c.*2742A= (MTHFR) MANE Select	ENSP00000365775.3:n.*2742A=
ENST00000376592.6:c.*2742A= (MTHFR)	ENSP00000365777.1:n.*2742A=
ENST00000312793.9:c.1889T= (C1orf167)
ENST00000376583.7:c.4836A= (MTHFR)	ENSP00000365767.3:n.4836A=
ENST00000376590.7:c.*2742A= (MTHFR)	ENSP00000365775.3:n.*2742A=
ENST00000376592.5:c.*2742A= (MTHFR)	ENSP00000365777.1:n.*2742A=
ENST00000433342.5:c.3811T= (C1orf167)	ENSP00000414909.2:p.Trp1271=
ENST00000444493.5:c.1238T= (C1orf167)
ENST00000449278.1:c.1068T= (C1orf167)
ENST00000475041.1:n.670T= (C1orf167)
ENST00000482358.1:n.127T= (C1orf167)
NM_001010881.1:c.3739T= (C1orf167)	NP_001010881.1:p.Trp1247=
NM_005957.4:c.*2742A= , LRG_726t1:c.*2742A= (MTHFR)	NP_005948.3:n.*2742A=
XM_006711078.2:c.3739T= (C1orf167)	XP_006711141.1:p.Trp1247=
XM_011541267.1:c.3874T= (C1orf167)	XP_011539569.1:p.Trp1292=
XM_011541268.1:c.3874T= (C1orf167)	XP_011539570.1:p.Trp1292=
XM_011541269.1:c.3874T= (C1orf167)	XP_011539571.1:p.Trp1292=
XM_011541270.1:c.3874T= (C1orf167)	XP_011539572.1:p.Trp1292=
XM_011541271.1:c.3820T= (C1orf167)	XP_011539573.1:p.Trp1274=
XM_011541272.1:c.3874T= (C1orf167)	XP_011539574.1:p.Trp1292=
XM_011541273.1:c.3739T= (C1orf167)	XP_011539575.1:p.Trp1247=
XM_011541274.1:c.3739T= (C1orf167)	XP_011539576.1:p.Trp1247=
XM_011541275.1:c.3739T= (C1orf167)	XP_011539577.1:p.Trp1247=
XM_011541276.1:c.3874T= (C1orf167)	XP_011539578.1:p.Trp1292=
XM_011541277.1:c.3874T= (C1orf167)	XP_011539579.1:p.Trp1292=
XM_011541278.1:c.3874T= (C1orf167)	XP_011539580.1:p.Trp1292=
XM_011541279.1:c.3466T= (C1orf167)	XP_011539581.1:p.Trp1156=
XM_011541280.1:c.2155T= (C1orf167)	XP_011539582.1:p.Trp719=
XM_011541281.1:c.2155T= (C1orf167)	XP_011539583.1:p.Trp719=
NM_001330358.1:c.*2742A= (MTHFR)	NP_001317287.1:n.*2742A=
XM_011541272.3:c.3874T= (C1orf167)	XP_011539574.1:p.Trp1292=
XM_011541276.3:c.3874T= (C1orf167)	XP_011539578.1:p.Trp1292=
XM_011541277.3:c.3874T= (C1orf167)	XP_011539579.1:p.Trp1292=
XM_011541278.2:c.3874T= (C1orf167)	XP_011539580.1:p.Trp1292=
XM_024446506.1:c.3874T= (C1orf167)	XP_024302274.1:p.Trp1292=
XM_024446507.1:c.3874T= (C1orf167)	XP_024302275.1:p.Trp1292=
XM_024446508.1:c.3874T= (C1orf167)	XP_024302276.1:p.Trp1292=
XM_024446509.1:c.3874T= (C1orf167)	XP_024302277.1:p.Trp1292=
XM_024446512.1:c.3820T= (C1orf167)	XP_024302280.1:p.Trp1274=
XM_024446514.1:c.3739T= (C1orf167)	XP_024302282.1:p.Trp1247=
XM_024446515.1:c.3739T= (C1orf167)	XP_024302283.1:p.Trp1247=
XM_024446517.1:c.3739T= (C1orf167)	XP_024302285.1:p.Trp1247=
XM_024446518.1:c.2155T= (C1orf167)	XP_024302286.1:p.Trp719=
NM_001010881.2:c.3739T= (C1orf167) MANE Select	NP_001010881.1:p.Trp1247=
NM_005957.5:c.*2742A= (MTHFR) MANE Select	NP_005948.3:n.*2742A=
NM_001330358.2:c.*2742A= (MTHFR)	NP_001317287.1:n.*2742A=