Canonical Allele Identifier: CA2841582109

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11792338dup , CM000663.2:g.11792338dup	GRCh38
NC_000001.10:g.11852395dup , CM000663.1:g.11852395dup	GRCh37
NC_000001.9:g.11774982dup	NCBI36
NG_013351.1:g.18766dup , LRG_726:g.18766dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1695dup	ENSP00000365770.1:p.Leu566ThrfsTer13
ENST00000376590.9:c.1572dup MANE Select	ENSP00000365775.3:p.Leu525ThrfsTer13
ENST00000376592.6:c.1572dup	ENSP00000365777.1:p.Leu525ThrfsTer13
ENST00000423400.7:c.1692dup	ENSP00000398908.3:p.Leu565ThrfsTer13
ENST00000641407.1:c.1572dup	ENSP00000493098.1:p.Leu525ThrfsTer13
ENST00000641446.1:c.1572dup	ENSP00000493262.1:p.Leu525ThrfsTer13
ENST00000641747.1:c.*1084dup	ENSP00000493116.1:n.*1084dup
ENST00000641759.1:n.1941dup
ENST00000641805.1:n.2089dup
ENST00000641820.1:c.837dup	ENSP00000492937.1:p.Leu280ThrfsTer13
ENST00000376583.7:c.1695dup	ENSP00000365767.3:p.Leu566ThrfsTer13
ENST00000376585.5:c.1695dup	ENSP00000365770.1:p.Leu566ThrfsTer13
ENST00000376590.7:c.1572dup	ENSP00000365775.3:p.Leu525ThrfsTer13
ENST00000376592.5:c.1572dup	ENSP00000365777.1:p.Leu525ThrfsTer13
NM_005957.4:c.1572dup , LRG_726t1:c.1572dup	NP_005948.3:p.Leu525ThrfsTer13
XM_005263458.2:c.1695dup	XP_005263515.1:p.Leu566ThrfsTer13
XM_005263460.3:c.1572dup	XP_005263517.1:p.Leu525ThrfsTer13
XM_005263461.3:c.1572dup	XP_005263518.1:p.Leu525ThrfsTer13
XM_005263462.3:c.1572dup	XP_005263519.1:p.Leu525ThrfsTer13
XM_005263463.2:c.1326dup	XP_005263520.1:p.Leu443ThrfsTer13
XM_011541495.1:c.1692dup	XP_011539797.1:p.Leu565ThrfsTer13
XM_011541496.1:c.1695dup	XP_011539798.1:p.Leu566ThrfsTer13
NM_001330358.1:c.1695dup	NP_001317287.1:p.Leu566ThrfsTer13
XM_005263460.5:c.1572dup	XP_005263517.1:p.Leu525ThrfsTer13
XM_005263462.4:c.1572dup	XP_005263519.1:p.Leu525ThrfsTer13
XM_005263463.4:c.1326dup	XP_005263520.1:p.Leu443ThrfsTer13
XM_011541495.3:c.1692dup	XP_011539797.1:p.Leu565ThrfsTer13
XM_011541496.3:c.1695dup	XP_011539798.1:p.Leu566ThrfsTer13
XM_017001328.2:c.1695dup	XP_016856817.1:p.Leu566ThrfsTer13
XM_024447198.1:c.1326dup	XP_024302966.1:p.Leu443ThrfsTer13
XR_002956640.1:n.2673dup
NM_005957.5:c.1572dup MANE Select	NP_005948.3:p.Leu525ThrfsTer13
NM_001330358.2:c.1695dup	NP_001317287.1:p.Leu566ThrfsTer13