Canonical Allele Identifier: CA390002885

Gene: MTHFD1 ZBTB25

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64449592C>T , CM000676.2:g.64449592C>T	GRCh38
NC_000014.8:g.64916310C>T , CM000676.1:g.64916310C>T	GRCh37
NC_000014.7:g.63986063C>T	NCBI36
NG_012450.1:g.66552C>T
NG_012450.2:g.66552C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005956.4:c.2427C>T (MTHFD1) MANE Select	NP_005947.3:p.Pro809=
ENST00000652337.1:c.2427C>T (MTHFD1) MANE Select	ENSP00000498336.1:p.Pro809=
NM_001304508.1:c.220G>A (ZBTB25)	NP_001291437.1:p.Gly74Arg
NM_001364837.1:c.2427C>T (MTHFD1)	NP_001351766.1:p.Pro809=
NM_005956.3:c.2427C>T (MTHFD1)	NP_005947.3:p.Pro809=
ENST00000216605.12:c.2427C>T (MTHFD1)	ENSP00000216605.8:p.Pro809=
ENST00000545908.5:c.2595C>T (MTHFD1)	ENSP00000438588.1:p.Pro865=
ENST00000545908.6:c.2427C>T (MTHFD1)	ENSP00000438588.2:p.Pro809=
ENST00000553405.1:n.749C>T (MTHFD1)
ENST00000554768.6:c.2184C>T (MTHFD1)	ENSP00000477501.2:p.Pro728=
ENST00000555220.5:c.220G>A (ZBTB25)	ENSP00000450718.1:p.Gly74Arg
ENST00000555424.1:c.303G>A (ZBTB25)	ENSP00000451046.1:n.303G>A
ENST00000556284.1:n.92C>T (MTHFD1)
ENST00000557370.3:c.2427C>T (MTHFD1)	ENSP00000477199.2:p.Pro809=
ENST00000557539.2:c.2184C>T (MTHFD1)	ENSP00000476468.2:p.Pro728=
ENST00000650853.1:n.3543C>T (MTHFD1)
ENST00000651537.1:c.2427C>T (MTHFD1)	ENSP00000498511.1:p.Pro809=
ENST00000651891.1:n.414C>T (MTHFD1)
ENST00000652179.1:c.2184C>T (MTHFD1)	ENSP00000498649.1:p.Pro728=
ENST00000652509.1:c.1660C>T (MTHFD1)
ENST00000697166.1:n.2576C>T (MTHFD1)
ENST00000697167.1:c.*1111C>T (MTHFD1)	ENSP00000513155.1:n.*1111C>T
ENST00000697168.1:c.2427C>T (MTHFD1)	ENSP00000513156.1:p.Pro809=
ENST00000697169.1:c.*428C>T (MTHFD1)	ENSP00000513157.1:n.*428C>T
ENST00000697170.1:n.3591C>T (MTHFD1)
ENST00000697171.1:c.2427C>T (MTHFD1)	ENSP00000513158.1:p.Pro809=
ENST00000697173.1:c.2184C>T (MTHFD1)	ENSP00000513159.1:p.Pro728=
ENST00000697174.1:c.2178C>T (MTHFD1)	ENSP00000513160.1:p.Pro726=
ENST00000697175.1:c.*1223C>T (MTHFD1)	ENSP00000513161.1:n.*1223C>T
ENST00000697176.1:c.2036+1275C>T (MTHFD1)	ENSP00000513162.1:n.2036+1275C>T
ENST00000697177.1:n.882C>T (MTHFD1)
XM_006720250.2:c.*18G>A (ZBTB25)	XP_006720313.1:n.*18G>A
XM_006720250.4:c.*18G>A (ZBTB25)	XP_006720313.1:n.*18G>A