Canonical Allele Identifier: CA1139837776

Gene: C1orf167 MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11789390A= , CM000663.2:g.11789390A=	GRCh38
NC_000001.10:g.11849447A= , CM000663.1:g.11849447A=	GRCh37
NC_000001.9:g.11772034A=	NCBI36
NG_013351.1:g.21714T= , LRG_726:g.21714T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433342.6:c.3793A= (C1orf167)	ENSP00000414909.3:p.Arg1265=
ENST00000688073.1:c.4294A= (C1orf167) MANE Select	ENSP00000510540.1:p.Arg1432=
ENST00000376585.6:c.*1290T= (MTHFR)	ENSP00000365770.1:n.*1290T=
ENST00000376590.9:c.*1290T= (MTHFR) MANE Select	ENSP00000365775.3:n.*1290T=
ENST00000376592.6:c.*1290T= (MTHFR)	ENSP00000365777.1:n.*1290T=
ENST00000312793.9:c.2429A= (C1orf167)
ENST00000376583.7:c.3384T= (MTHFR)	ENSP00000365767.3:n.3384T=
ENST00000376585.5:c.*1290T= (MTHFR)	ENSP00000365770.1:n.*1290T=
ENST00000376590.7:c.*1290T= (MTHFR)	ENSP00000365775.3:n.*1290T=
ENST00000376592.5:c.*1290T= (MTHFR)	ENSP00000365777.1:n.*1290T=
ENST00000433342.5:c.4351A= (C1orf167)	ENSP00000414909.2:p.Arg1451=
ENST00000444493.5:c.1793A= (C1orf167)
ENST00000449278.1:c.1529A= (C1orf167)
ENST00000482358.1:n.588A= (C1orf167)
NM_001010881.1:c.4294A= (C1orf167)	NP_001010881.1:p.Arg1432=
NM_005957.4:c.*1290T= , LRG_726t1:c.*1290T= (MTHFR)	NP_005948.3:n.*1290T=
XM_011541272.1:c.4429A= (C1orf167)	XP_011539574.1:p.Arg1477=
XM_011541276.1:c.4335A= (C1orf167)	XP_011539578.1:p.Pro1445=
XM_011541277.1:c.4240A= (C1orf167)	XP_011539579.1:p.Arg1414=
NM_001330358.1:c.*1290T= (MTHFR)	NP_001317287.1:n.*1290T=
XM_011541272.3:c.4429A= (C1orf167)	XP_011539574.1:p.Arg1477=
XM_011541276.3:c.4335A= (C1orf167)	XP_011539578.1:p.Pro1445=
XM_011541277.3:c.4240A= (C1orf167)	XP_011539579.1:p.Arg1414=
XM_024446506.1:c.*347A= (C1orf167)	XP_024302274.1:n.*347A=
XM_024446507.1:c.*347A= (C1orf167)	XP_024302275.1:n.*347A=
XM_024446508.1:c.*347A= (C1orf167)	XP_024302276.1:n.*347A=
XM_024446509.1:c.*347A= (C1orf167)	XP_024302277.1:n.*347A=
XM_024446512.1:c.*347A= (C1orf167)	XP_024302280.1:n.*347A=
XM_024446514.1:c.*347A= (C1orf167)	XP_024302282.1:n.*347A=
XM_024446515.1:c.*347A= (C1orf167)	XP_024302283.1:n.*347A=
XM_024446517.1:c.*347A= (C1orf167)	XP_024302285.1:n.*347A=
XM_024446518.1:c.*347A= (C1orf167)	XP_024302286.1:n.*347A=
NM_001010881.2:c.4294A= (C1orf167) MANE Select	NP_001010881.1:p.Arg1432=
NM_005957.5:c.*1290T= (MTHFR) MANE Select	NP_005948.3:n.*1290T=
NM_001330358.2:c.*1290T= (MTHFR)	NP_001317287.1:n.*1290T=