Canonical Allele Identifier: CA389995981

Gene: MTHFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64440258G>T , CM000676.2:g.64440258G>T	GRCh38
NC_000014.8:g.64906976G>T , CM000676.1:g.64906976G>T	GRCh37
NC_000014.7:g.63976729G>T	NCBI36
NG_012450.1:g.57218G>T
NG_012450.2:g.57218G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005956.4:c.1807G>T MANE Select	NP_005947.3:p.Glu603Ter
ENST00000652337.1:c.1807G>T MANE Select	ENSP00000498336.1:p.Glu603Ter
NM_001364837.1:c.1807G>T	NP_001351766.1:p.Glu603Ter
NM_005956.3:c.1807G>T	NP_005947.3:p.Glu603Ter
ENST00000216605.12:c.1807G>T	ENSP00000216605.8:p.Glu603Ter
ENST00000545908.5:c.1975G>T	ENSP00000438588.1:p.Glu659Ter
ENST00000545908.6:c.1807G>T	ENSP00000438588.2:p.Glu603Ter
ENST00000554677.1:n.347G>T
ENST00000554768.6:c.1564G>T	ENSP00000477501.2:p.Glu522Ter
ENST00000555252.5:n.1864G>T
ENST00000556771.5:n.38G>T
ENST00000556771.6:n.38G>T
ENST00000557370.3:c.1807G>T	ENSP00000477199.2:p.Glu603Ter
ENST00000557539.2:c.1564G>T	ENSP00000476468.2:p.Glu522Ter
ENST00000650853.1:n.1805G>T
ENST00000651537.1:c.1807G>T	ENSP00000498511.1:p.Glu603Ter
ENST00000652179.1:c.1564G>T	ENSP00000498649.1:p.Glu522Ter
ENST00000652509.1:c.1040G>T
ENST00000697166.1:n.1956G>T
ENST00000697167.1:c.*491G>T	ENSP00000513155.1:n.*491G>T
ENST00000697168.1:c.1807G>T	ENSP00000513156.1:p.Glu603Ter
ENST00000697169.1:c.1807G>T	ENSP00000513157.1:p.Glu603Ter
ENST00000697170.1:n.1853G>T
ENST00000697171.1:c.1807G>T	ENSP00000513158.1:p.Glu603Ter
ENST00000697173.1:c.1564G>T	ENSP00000513159.1:p.Glu522Ter
ENST00000697174.1:c.1558G>T	ENSP00000513160.1:p.Glu520Ter
ENST00000697175.1:c.*603G>T	ENSP00000513161.1:n.*603G>T
ENST00000697176.1:c.1564G>T	ENSP00000513162.1:p.Glu522Ter
ENST00000697177.1:n.262G>T