Canonical Allele Identifier: CA338470471

Gene: C1orf167 MTHFR

Linked Data

• gnomAD v4: 1-11788364-C-A
• MyVariant Identifiers: chr1:g.11848421C>A (hg19) ; chr1:g.11788364C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11788364C>A , CM000663.2:g.11788364C>A	GRCh38
NC_000001.10:g.11848421C>A , CM000663.1:g.11848421C>A	GRCh37
NC_000001.9:g.11771008C>A	NCBI36
NG_013351.1:g.22740G>T , LRG_726:g.22740G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433342.6:c.3563C>A (C1orf167)	ENSP00000414909.3:p.Ala1188Asp
ENST00000688073.1:c.4064C>A (C1orf167) MANE Select	ENSP00000510540.1:p.Ala1355Asp
ENST00000376585.6:c.*2316G>T (MTHFR)	ENSP00000365770.1:n.*2316G>T
ENST00000376590.9:c.*2316G>T (MTHFR) MANE Select	ENSP00000365775.3:n.*2316G>T
ENST00000376592.6:c.*2316G>T (MTHFR)	ENSP00000365777.1:n.*2316G>T
ENST00000312793.9:c.2199C>A (C1orf167)
ENST00000376583.7:c.4410G>T (MTHFR)	ENSP00000365767.3:n.4410G>T
ENST00000376585.5:c.*2316G>T (MTHFR)	ENSP00000365770.1:n.*2316G>T
ENST00000376590.7:c.*2316G>T (MTHFR)	ENSP00000365775.3:n.*2316G>T
ENST00000376592.5:c.*2316G>T (MTHFR)	ENSP00000365777.1:n.*2316G>T
ENST00000433342.5:c.4121C>A (C1orf167)	ENSP00000414909.2:p.Ala1374Asp
ENST00000444493.5:c.1563C>A (C1orf167)
ENST00000449278.1:c.1299C>A (C1orf167)
ENST00000482358.1:n.358C>A (C1orf167)
NM_001010881.1:c.4064C>A (C1orf167)	NP_001010881.1:p.Ala1355Asp
NM_005957.4:c.*2316G>T , LRG_726t1:c.*2316G>T (MTHFR)	NP_005948.3:n.*2316G>T
XM_006711078.2:c.4064C>A (C1orf167)	XP_006711141.1:p.Ala1355Asp
XM_011541267.1:c.4199C>A (C1orf167)	XP_011539569.1:p.Ala1400Asp
XM_011541268.1:c.4199C>A (C1orf167)	XP_011539570.1:p.Ala1400Asp
XM_011541269.1:c.4199C>A (C1orf167)	XP_011539571.1:p.Ala1400Asp
XM_011541270.1:c.4199C>A (C1orf167)	XP_011539572.1:p.Ala1400Asp
XM_011541271.1:c.4145C>A (C1orf167)	XP_011539573.1:p.Ala1382Asp
XM_011541272.1:c.4199C>A (C1orf167)	XP_011539574.1:p.Ala1400Asp
XM_011541273.1:c.4064C>A (C1orf167)	XP_011539575.1:p.Ala1355Asp
XM_011541274.1:c.4064C>A (C1orf167)	XP_011539576.1:p.Ala1355Asp
XM_011541275.1:c.4064C>A (C1orf167)	XP_011539577.1:p.Ala1355Asp
XM_011541276.1:c.4105C>A (C1orf167)	XP_011539578.1:p.Leu1369Met
XM_011541277.1:c.4105C>A (C1orf167)	XP_011539579.1:p.Leu1369Met
XM_011541278.1:c.4199C>A (C1orf167)	XP_011539580.1:p.Ala1400Asp
XM_011541279.1:c.3791C>A (C1orf167)	XP_011539581.1:p.Ala1264Asp
XM_011541280.1:c.2480C>A (C1orf167)	XP_011539582.1:p.Ala827Asp
XM_011541281.1:c.2480C>A (C1orf167)	XP_011539583.1:p.Ala827Asp
NM_001330358.1:c.*2316G>T (MTHFR)	NP_001317287.1:n.*2316G>T
XM_011541272.3:c.4199C>A (C1orf167)	XP_011539574.1:p.Ala1400Asp
XM_011541276.3:c.4105C>A (C1orf167)	XP_011539578.1:p.Leu1369Met
XM_011541277.3:c.4105C>A (C1orf167)	XP_011539579.1:p.Leu1369Met
XM_011541278.2:c.4199C>A (C1orf167)	XP_011539580.1:p.Ala1400Asp
XM_024446506.1:c.4199C>A (C1orf167)	XP_024302274.1:p.Ala1400Asp
XM_024446507.1:c.4199C>A (C1orf167)	XP_024302275.1:p.Ala1400Asp
XM_024446508.1:c.4199C>A (C1orf167)	XP_024302276.1:p.Ala1400Asp
XM_024446509.1:c.4199C>A (C1orf167)	XP_024302277.1:p.Ala1400Asp
XM_024446512.1:c.4145C>A (C1orf167)	XP_024302280.1:p.Ala1382Asp
XM_024446514.1:c.4064C>A (C1orf167)	XP_024302282.1:p.Ala1355Asp
XM_024446515.1:c.4064C>A (C1orf167)	XP_024302283.1:p.Ala1355Asp
XM_024446517.1:c.4064C>A (C1orf167)	XP_024302285.1:p.Ala1355Asp
XM_024446518.1:c.2480C>A (C1orf167)	XP_024302286.1:p.Ala827Asp
NM_001010881.2:c.4064C>A (C1orf167) MANE Select	NP_001010881.1:p.Ala1355Asp
NM_005957.5:c.*2316G>T (MTHFR) MANE Select	NP_005948.3:n.*2316G>T
NM_001330358.2:c.*2316G>T (MTHFR)	NP_001317287.1:n.*2316G>T