Canonical Allele Identifier: CA390003573

Gene: MTHFD1 ZBTB25

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64454786C>T , CM000676.2:g.64454786C>T	GRCh38
NC_000014.8:g.64921504C>T , CM000676.1:g.64921504C>T	GRCh37
NC_000014.7:g.63991257C>T	NCBI36
NG_012450.1:g.71746C>T
NG_012450.2:g.71746C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005956.4:c.2629C>T (MTHFD1) MANE Select	NP_005947.3:p.Gln877Ter
ENST00000652337.1:c.2629C>T (MTHFD1) MANE Select	ENSP00000498336.1:p.Gln877Ter
NM_001304508.1:c.174-5148G>A (ZBTB25)	NP_001291437.1:n.174-5148G>A
NM_001364837.1:c.2629C>T (MTHFD1)	NP_001351766.1:p.Gln877Ter
NM_005956.3:c.2629C>T (MTHFD1)	NP_005947.3:p.Gln877Ter
ENST00000216605.12:c.2629C>T (MTHFD1)	ENSP00000216605.8:p.Gln877Ter
ENST00000545908.5:c.2797C>T (MTHFD1)	ENSP00000438588.1:p.Gln933Ter
ENST00000545908.6:c.2629C>T (MTHFD1)	ENSP00000438588.2:p.Gln877Ter
ENST00000554768.6:c.2386C>T (MTHFD1)	ENSP00000477501.2:p.Gln796Ter
ENST00000555220.5:c.174-5148G>A (ZBTB25)	ENSP00000450718.1:n.174-5148G>A
ENST00000555424.1:c.257-5148G>A (ZBTB25)	ENSP00000451046.1:n.257-5148G>A
ENST00000556284.1:n.294C>T (MTHFD1)
ENST00000557370.2:c.184C>T (MTHFD1)	ENSP00000477199.1:p.Gln62Ter
ENST00000557370.3:c.2629C>T (MTHFD1)	ENSP00000477199.2:p.Gln877Ter
ENST00000557539.2:c.2386C>T (MTHFD1)	ENSP00000476468.2:p.Gln796Ter
ENST00000650853.1:n.3745C>T (MTHFD1)
ENST00000651537.1:c.2629C>T (MTHFD1)	ENSP00000498511.1:p.Gln877Ter
ENST00000651891.1:n.616C>T (MTHFD1)
ENST00000652179.1:c.2386C>T (MTHFD1)	ENSP00000498649.1:p.Gln796Ter
ENST00000652509.1:c.1754C>T (MTHFD1)
ENST00000697166.1:n.2778C>T (MTHFD1)
ENST00000697167.1:c.*1249+925C>T (MTHFD1)	ENSP00000513155.1:n.*1249+925C>T
ENST00000697168.1:c.2565+925C>T (MTHFD1)	ENSP00000513156.1:n.2565+925C>T
ENST00000697169.1:c.*630C>T (MTHFD1)	ENSP00000513157.1:n.*630C>T
ENST00000697170.1:n.3793C>T (MTHFD1)
ENST00000697171.1:c.2640C>T (MTHFD1)	ENSP00000513158.1:p.Ser880=
ENST00000697173.1:c.2386C>T (MTHFD1)	ENSP00000513159.1:p.Gln796Ter
ENST00000697174.1:c.2380C>T (MTHFD1)	ENSP00000513160.1:p.Gln794Ter
ENST00000697175.1:c.*1425C>T (MTHFD1)	ENSP00000513161.1:n.*1425C>T
ENST00000697176.1:c.2208C>T (MTHFD1)	ENSP00000513162.1:p.Ser736=
ENST00000697177.1:n.1084C>T (MTHFD1)
XM_006720250.2:c.1493-5148G>A (ZBTB25)	XP_006720313.1:n.1493-5148G>A
XM_006720250.4:c.1493-5148G>A (ZBTB25)	XP_006720313.1:n.1493-5148G>A