Canonical Allele Identifier: CA338474622
Community Standard Title: NM_005957.5(MTHFR):c.1657G>T (p.Glu553Ter)
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11791302C>A , CM000663.2:g.11791302C>A GRCh38
NC_000001.10:g.11851359C>A , CM000663.1:g.11851359C>A GRCh37
NC_000001.9:g.11773946C>A NCBI36
NG_013351.1:g.19802G>T , LRG_726:g.19802G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005957.5:c.1657G>T MANE Select NP_005948.3:p.Glu553Ter
ENST00000376590.9:c.1657G>T MANE Select ENSP00000365775.3:p.Glu553Ter
NM_001330358.1:c.1780G>T NP_001317287.1:p.Glu594Ter
NM_001330358.2:c.1780G>T NP_001317287.1:p.Glu594Ter
NM_005957.4:c.1657G>T , LRG_726t1:c.1657G>T NP_005948.3:p.Glu553Ter
ENST00000376583.7:c.1780G>T ENSP00000365767.3:p.Glu594Ter
ENST00000376585.5:c.1780G>T ENSP00000365770.1:p.Glu594Ter
ENST00000376585.6:c.1780G>T ENSP00000365770.1:p.Glu594Ter
ENST00000376590.7:c.1657G>T ENSP00000365775.3:p.Glu553Ter
ENST00000376592.5:c.1657G>T ENSP00000365777.1:p.Glu553Ter
ENST00000376592.6:c.1657G>T ENSP00000365777.1:p.Glu553Ter
ENST00000423400.7:c.1777G>T ENSP00000398908.3:p.Glu593Ter
ENST00000641407.1:c.1657G>T ENSP00000493098.1:p.Glu553Ter
ENST00000641446.1:c.*116G>T ENSP00000493262.1:n.*116G>T
ENST00000641747.1:c.*1169G>T ENSP00000493116.1:n.*1169G>T
ENST00000641759.1:n.2026G>T
ENST00000641805.1:n.2174G>T
ENST00000641820.1:c.922G>T ENSP00000492937.1:p.Glu308Ter
XM_005263458.2:c.1780G>T XP_005263515.1:p.Glu594Ter
XM_005263460.3:c.1657G>T XP_005263517.1:p.Glu553Ter
XM_005263460.5:c.1657G>T XP_005263517.1:p.Glu553Ter
XM_005263461.3:c.1657G>T XP_005263518.1:p.Glu553Ter
XM_005263462.3:c.1657G>T XP_005263519.1:p.Glu553Ter
XM_005263462.4:c.1657G>T XP_005263519.1:p.Glu553Ter
XM_005263463.2:c.1411G>T XP_005263520.1:p.Glu471Ter
XM_005263463.4:c.1411G>T XP_005263520.1:p.Glu471Ter
XM_011541495.1:c.1777G>T XP_011539797.1:p.Glu593Ter
XM_011541495.3:c.1777G>T XP_011539797.1:p.Glu593Ter
XM_011541496.1:c.1780G>T XP_011539798.1:p.Glu594Ter
XM_011541496.3:c.1780G>T XP_011539798.1:p.Glu594Ter
XM_017001328.2:c.1780G>T XP_016856817.1:p.Glu594Ter
XM_024447198.1:c.1411G>T XP_024302966.1:p.Glu471Ter
XR_002956640.1:n.2758G>T