Canonical Allele Identifier: CA2142672298

Gene: MTHFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64419871G= , CM000676.2:g.64419871G=	GRCh38
NC_000014.8:g.64886589G= , CM000676.1:g.64886589G=	GRCh37
NC_000014.7:g.63956342G=	NCBI36
NG_012450.1:g.36831G=
NG_012450.2:g.36831G=

Transcript Alleles

HGVS	Amino-acid Change
NM_005956.4:c.673G= MANE Select	NP_005947.3:p.Glu225=
ENST00000652337.1:c.673G= MANE Select	ENSP00000498336.1:p.Glu225=
NM_001364837.1:c.673G=	NP_001351766.1:p.Glu225=
NM_005956.3:c.673G=	NP_005947.3:p.Glu225=
ENST00000216605.12:c.673G=	ENSP00000216605.8:p.Glu225=
ENST00000545908.5:c.841G=	ENSP00000438588.1:p.Glu281=
ENST00000545908.6:c.673G=	ENSP00000438588.2:p.Glu225=
ENST00000554057.5:n.106G=
ENST00000554768.6:c.430G=	ENSP00000477501.2:p.Glu144=
ENST00000555252.5:n.730G=
ENST00000555709.7:c.*50G=	ENSP00000450560.3:n.*50G=
ENST00000555858.2:n.822G=
ENST00000557370.3:c.673G=	ENSP00000477199.2:p.Glu225=
ENST00000557539.2:c.430G=	ENSP00000476468.2:p.Glu144=
ENST00000650853.1:n.748G=
ENST00000651537.1:c.673G=	ENSP00000498511.1:p.Glu225=
ENST00000652179.1:c.430G=	ENSP00000498649.1:p.Glu144=
ENST00000652503.1:n.297G=
ENST00000697166.1:n.822G=
ENST00000697167.1:c.673G=	ENSP00000513155.1:p.Glu225=
ENST00000697168.1:c.673G=	ENSP00000513156.1:p.Glu225=
ENST00000697169.1:c.673G=	ENSP00000513157.1:p.Glu225=
ENST00000697170.1:n.822G=
ENST00000697171.1:c.673G=	ENSP00000513158.1:p.Glu225=
ENST00000697173.1:c.430G=	ENSP00000513159.1:p.Glu144=
ENST00000697174.1:c.478+4132G=	ENSP00000513160.1:n.478+4132G=
ENST00000697175.1:c.430G=	ENSP00000513161.1:p.Glu144=
ENST00000697176.1:c.430G=	ENSP00000513162.1:p.Glu144=