Canonical Allele Identifier: CA261835495

Gene: MTHFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64426071C>T , CM000676.2:g.64426071C>T	GRCh38
NC_000014.8:g.64892789C>T , CM000676.1:g.64892789C>T	GRCh37
NC_000014.7:g.63962542C>T	NCBI36
NG_012450.1:g.43031C>T
NG_012450.2:g.43031C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005956.4:c.1006C>T MANE Select	NP_005947.3:p.Arg336Ter
ENST00000652337.1:c.1006C>T MANE Select	ENSP00000498336.1:p.Arg336Ter
NM_001364837.1:c.1006C>T	NP_001351766.1:p.Arg336Ter
NM_005956.3:c.1006C>T	NP_005947.3:p.Arg336Ter
ENST00000216605.12:c.1006C>T	ENSP00000216605.8:p.Arg336Ter
ENST00000545908.5:c.1174C>T	ENSP00000438588.1:p.Arg392Ter
ENST00000545908.6:c.1006C>T	ENSP00000438588.2:p.Arg336Ter
ENST00000553391.2:n.310C>T
ENST00000554057.5:n.439C>T
ENST00000554768.6:c.763C>T	ENSP00000477501.2:p.Arg255Ter
ENST00000555252.5:n.1063C>T
ENST00000555709.7:c.*383C>T	ENSP00000450560.3:n.*383C>T
ENST00000555858.2:n.1155C>T
ENST00000557370.3:c.1006C>T	ENSP00000477199.2:p.Arg336Ter
ENST00000557539.2:c.763C>T	ENSP00000476468.2:p.Arg255Ter
ENST00000650853.1:n.1081C>T
ENST00000651537.1:c.1006C>T	ENSP00000498511.1:p.Arg336Ter
ENST00000652179.1:c.763C>T	ENSP00000498649.1:p.Arg255Ter
ENST00000652509.1:c.239C>T
ENST00000697166.1:n.1155C>T
ENST00000697167.1:c.1006C>T	ENSP00000513155.1:p.Arg336Ter
ENST00000697168.1:c.1006C>T	ENSP00000513156.1:p.Arg336Ter
ENST00000697169.1:c.1006C>T	ENSP00000513157.1:p.Arg336Ter
ENST00000697170.1:n.1155C>T
ENST00000697171.1:c.1006C>T	ENSP00000513158.1:p.Arg336Ter
ENST00000697173.1:c.763C>T	ENSP00000513159.1:p.Arg255Ter
ENST00000697174.1:c.757C>T	ENSP00000513160.1:p.Arg253Ter
ENST00000697175.1:c.763C>T	ENSP00000513161.1:p.Arg255Ter
ENST00000697176.1:c.763C>T	ENSP00000513162.1:p.Arg255Ter