Canonical Allele Identifier: CA7226671

Gene: MTHFD1 ZBTB25

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64454892A>G , CM000676.2:g.64454892A>G	GRCh38
NC_000014.8:g.64921610A>G , CM000676.1:g.64921610A>G	GRCh37
NC_000014.7:g.63991363A>G	NCBI36
NG_012450.1:g.71852A>G
NG_012450.2:g.71852A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005956.4:c.2718+17A>G (MTHFD1) MANE Select	NP_005947.3:n.2718+17A>G
ENST00000652337.1:c.2718+17A>G (MTHFD1) MANE Select	ENSP00000498336.1:n.2718+17A>G
NM_001304508.1:c.174-5254T>C (ZBTB25)	NP_001291437.1:n.174-5254T>C
NM_001364837.1:c.2718+17A>G (MTHFD1)	NP_001351766.1:n.2718+17A>G
NM_005956.3:c.2718+17A>G (MTHFD1)	NP_005947.3:n.2718+17A>G
ENST00000216605.12:c.2718+17A>G (MTHFD1)	ENSP00000216605.8:n.2718+17A>G
ENST00000545908.5:c.2886+17A>G (MTHFD1)	ENSP00000438588.1:n.2886+17A>G
ENST00000545908.6:c.2718+17A>G (MTHFD1)	ENSP00000438588.2:n.2718+17A>G
ENST00000554768.6:c.2475+17A>G (MTHFD1)	ENSP00000477501.2:n.2475+17A>G
ENST00000555220.5:c.174-5254T>C (ZBTB25)	ENSP00000450718.1:n.174-5254T>C
ENST00000555424.1:c.257-5254T>C (ZBTB25)	ENSP00000451046.1:n.257-5254T>C
ENST00000556284.1:n.383+17A>G (MTHFD1)
ENST00000557370.2:c.290A>G (MTHFD1)	ENSP00000477199.1:p.Lys97Arg
ENST00000557370.3:c.2735A>G (MTHFD1)	ENSP00000477199.2:p.Lys912Arg
ENST00000557539.2:c.2475+17A>G (MTHFD1)	ENSP00000476468.2:n.2475+17A>G
ENST00000650853.1:n.3834+17A>G (MTHFD1)
ENST00000651537.1:c.2718+17A>G (MTHFD1)	ENSP00000498511.1:n.2718+17A>G
ENST00000651891.1:n.705+17A>G (MTHFD1)
ENST00000652179.1:c.2475+17A>G (MTHFD1)	ENSP00000498649.1:n.2475+17A>G
ENST00000652509.1:c.1843+17A>G (MTHFD1)
ENST00000697166.1:n.2884A>G (MTHFD1)
ENST00000697167.1:c.*1249+1031A>G (MTHFD1)	ENSP00000513155.1:n.*1249+1031A>G
ENST00000697168.1:c.2565+1031A>G (MTHFD1)	ENSP00000513156.1:n.2565+1031A>G
ENST00000697169.1:c.*719+17A>G (MTHFD1)	ENSP00000513157.1:n.*719+17A>G
ENST00000697170.1:n.3882+17A>G (MTHFD1)
ENST00000697171.1:c.*8+17A>G (MTHFD1)	ENSP00000513158.1:n.*8+17A>G
ENST00000697173.1:c.2475+17A>G (MTHFD1)	ENSP00000513159.1:n.2475+17A>G
ENST00000697174.1:c.2469+17A>G (MTHFD1)	ENSP00000513160.1:n.2469+17A>G
ENST00000697175.1:c.*1514+17A>G (MTHFD1)	ENSP00000513161.1:n.*1514+17A>G
ENST00000697176.1:c.*8+17A>G (MTHFD1)	ENSP00000513162.1:n.*8+17A>G
ENST00000697177.1:n.1173+17A>G (MTHFD1)
XM_006720250.2:c.1493-5254T>C (ZBTB25)	XP_006720313.1:n.1493-5254T>C
XM_006720250.4:c.1493-5254T>C (ZBTB25)	XP_006720313.1:n.1493-5254T>C