Canonical Allele Identifier: CA886036683

Gene: C1orf167 MTHFR

Linked Data

• dbSNP Id: rs1296821335
• MyVariant Identifiers: chr1:g.11848280_11848281insCGAT (hg19) ; chr1:g.11788223_11788224insCGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11788224_11788227dup , CM000663.2:g.11788224_11788227dup	GRCh38
NC_000001.10:g.11848281_11848284dup , CM000663.1:g.11848281_11848284dup	GRCh37
NC_000001.9:g.11770868_11770871dup	NCBI36
NG_013351.1:g.22877_22880dup , LRG_726:g.22877_22880dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433342.6:c.3423_3426dup (C1orf167)	ENSP00000414909.3:p.Ala1143ArgfsTer?
ENST00000688073.1:c.3924_3927dup (C1orf167) MANE Select	ENSP00000510540.1:p.Ala1310ArgfsTer?
ENST00000376585.6:c.*2453_*2456dup (MTHFR)	ENSP00000365770.1:n.*2453_*2456dup
ENST00000376590.9:c.*2453_*2456dup (MTHFR) MANE Select	ENSP00000365775.3:n.*2453_*2456dup
ENST00000376592.6:c.*2453_*2456dup (MTHFR)	ENSP00000365777.1:n.*2453_*2456dup
ENST00000312793.9:c.2059_2062dup (C1orf167)
ENST00000376583.7:c.4547_4550dup (MTHFR)	ENSP00000365767.3:n.4547_4550dup
ENST00000376590.7:c.*2453_*2456dup (MTHFR)	ENSP00000365775.3:n.*2453_*2456dup
ENST00000376592.5:c.*2453_*2456dup (MTHFR)	ENSP00000365777.1:n.*2453_*2456dup
ENST00000433342.5:c.3981_3984dup (C1orf167)	ENSP00000414909.2:p.Ala1329ArgfsTer?
ENST00000444493.5:c.1423_1426dup (C1orf167)
ENST00000449278.1:c.1178-19_1178-16dup (C1orf167)
ENST00000482358.1:n.237-19_237-16dup (C1orf167)
NM_001010881.1:c.3924_3927dup (C1orf167)	NP_001010881.1:p.Ala1310ArgfsTer?
NM_005957.4:c.*2453_*2456dup , LRG_726t1:c.*2453_*2456dup (MTHFR)	NP_005948.3:n.*2453_*2456dup
XM_006711078.2:c.3924_3927dup (C1orf167)	XP_006711141.1:p.Ala1310ArgfsTer?
XM_011541267.1:c.4059_4062dup (C1orf167)	XP_011539569.1:p.Ala1355ArgfsTer?
XM_011541268.1:c.4059_4062dup (C1orf167)	XP_011539570.1:p.Ala1355ArgfsTer?
XM_011541269.1:c.4059_4062dup (C1orf167)	XP_011539571.1:p.Ala1355ArgfsTer?
XM_011541270.1:c.4059_4062dup (C1orf167)	XP_011539572.1:p.Ala1355ArgfsTer?
XM_011541271.1:c.4005_4008dup (C1orf167)	XP_011539573.1:p.Ala1337ArgfsTer?
XM_011541272.1:c.4059_4062dup (C1orf167)	XP_011539574.1:p.Ala1355ArgfsTer?
XM_011541273.1:c.3924_3927dup (C1orf167)	XP_011539575.1:p.Ala1310ArgfsTer?
XM_011541274.1:c.3924_3927dup (C1orf167)	XP_011539576.1:p.Ala1310ArgfsTer?
XM_011541275.1:c.3924_3927dup (C1orf167)	XP_011539577.1:p.Ala1310ArgfsTer?
XM_011541276.1:c.3984-19_3984-16dup (C1orf167)	XP_011539578.1:n.3984-19_3984-16dup
XM_011541277.1:c.3984-19_3984-16dup (C1orf167)	XP_011539579.1:n.3984-19_3984-16dup
XM_011541278.1:c.4059_4062dup (C1orf167)	XP_011539580.1:p.Ala1355ArgfsTer?
XM_011541279.1:c.3651_3654dup (C1orf167)	XP_011539581.1:p.Ala1219ArgfsTer?
XM_011541280.1:c.2340_2343dup (C1orf167)	XP_011539582.1:p.Ala782ArgfsTer?
XM_011541281.1:c.2340_2343dup (C1orf167)	XP_011539583.1:p.Ala782ArgfsTer?
NM_001330358.1:c.*2453_*2456dup (MTHFR)	NP_001317287.1:n.*2453_*2456dup
XM_011541272.3:c.4059_4062dup (C1orf167)	XP_011539574.1:p.Ala1355ArgfsTer?
XM_011541276.3:c.3984-19_3984-16dup (C1orf167)	XP_011539578.1:n.3984-19_3984-16dup
XM_011541277.3:c.3984-19_3984-16dup (C1orf167)	XP_011539579.1:n.3984-19_3984-16dup
XM_011541278.2:c.4059_4062dup (C1orf167)	XP_011539580.1:p.Ala1355ArgfsTer?
XM_024446506.1:c.4059_4062dup (C1orf167)	XP_024302274.1:p.Ala1355ArgfsTer?
XM_024446507.1:c.4059_4062dup (C1orf167)	XP_024302275.1:p.Ala1355ArgfsTer?
XM_024446508.1:c.4059_4062dup (C1orf167)	XP_024302276.1:p.Ala1355ArgfsTer?
XM_024446509.1:c.4059_4062dup (C1orf167)	XP_024302277.1:p.Ala1355ArgfsTer?
XM_024446512.1:c.4005_4008dup (C1orf167)	XP_024302280.1:p.Ala1337ArgfsTer?
XM_024446514.1:c.3924_3927dup (C1orf167)	XP_024302282.1:p.Ala1310ArgfsTer?
XM_024446515.1:c.3924_3927dup (C1orf167)	XP_024302283.1:p.Ala1310ArgfsTer?
XM_024446517.1:c.3924_3927dup (C1orf167)	XP_024302285.1:p.Ala1310ArgfsTer?
XM_024446518.1:c.2340_2343dup (C1orf167)	XP_024302286.1:p.Ala782ArgfsTer?
NM_001010881.2:c.3924_3927dup (C1orf167) MANE Select	NP_001010881.1:p.Ala1310ArgfsTer?
NM_005957.5:c.*2453_*2456dup (MTHFR) MANE Select	NP_005948.3:n.*2453_*2456dup
NM_001330358.2:c.*2453_*2456dup (MTHFR)	NP_001317287.1:n.*2453_*2456dup