Canonical Allele Identifier: CA389998690

Gene: MTHFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64442127G>C , CM000676.2:g.64442127G>C	GRCh38
NC_000014.8:g.64908845G>C , CM000676.1:g.64908845G>C	GRCh37
NC_000014.7:g.63978598G>C	NCBI36
NG_012450.1:g.59087G>C
NG_012450.2:g.59087G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005956.4:c.1958G>C MANE Select	NP_005947.3:p.Arg653Pro
ENST00000652337.1:c.1958G>C MANE Select	ENSP00000498336.1:p.Arg653Pro
NM_001364837.1:c.1958G>C	NP_001351766.1:p.Arg653Pro
NM_005956.3:c.1958G>C	NP_005947.3:p.Arg653Pro
ENST00000216605.12:c.1958G>C	ENSP00000216605.8:p.Arg653Pro
ENST00000545908.5:c.2126G>C	ENSP00000438588.1:p.Arg709Pro
ENST00000545908.6:c.1958G>C	ENSP00000438588.2:p.Arg653Pro
ENST00000553405.1:n.280G>C
ENST00000554768.6:c.1715G>C	ENSP00000477501.2:p.Arg572Pro
ENST00000556771.5:n.189G>C
ENST00000556771.6:n.189G>C
ENST00000557370.3:c.1958G>C	ENSP00000477199.2:p.Arg653Pro
ENST00000557539.2:c.1715G>C	ENSP00000476468.2:p.Arg572Pro
ENST00000650853.1:n.3074G>C
ENST00000651537.1:c.1958G>C	ENSP00000498511.1:p.Arg653Pro
ENST00000652179.1:c.1715G>C	ENSP00000498649.1:p.Arg572Pro
ENST00000652509.1:c.1191G>C
ENST00000697166.1:n.2107G>C
ENST00000697167.1:c.*642G>C	ENSP00000513155.1:n.*642G>C
ENST00000697168.1:c.1958G>C	ENSP00000513156.1:p.Arg653Pro
ENST00000697169.1:c.1885-136G>C	ENSP00000513157.1:n.1885-136G>C
ENST00000697170.1:n.3122G>C
ENST00000697171.1:c.1958G>C	ENSP00000513158.1:p.Arg653Pro
ENST00000697173.1:c.1715G>C	ENSP00000513159.1:p.Arg572Pro
ENST00000697174.1:c.1709G>C	ENSP00000513160.1:p.Arg570Pro
ENST00000697175.1:c.*754G>C	ENSP00000513161.1:n.*754G>C
ENST00000697176.1:c.1715G>C	ENSP00000513162.1:p.Arg572Pro
ENST00000697177.1:n.413G>C