Canonical Allele Identifier: CA7226634

Gene: MTHFD1 ZBTB25

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64453878T>C , CM000676.2:g.64453878T>C	GRCh38
NC_000014.8:g.64920596T>C , CM000676.1:g.64920596T>C	GRCh37
NC_000014.7:g.63990349T>C	NCBI36
NG_012450.1:g.70838T>C
NG_012450.2:g.70838T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005956.4:c.2565+17T>C (MTHFD1) MANE Select	NP_005947.3:n.2565+17T>C
ENST00000652337.1:c.2565+17T>C (MTHFD1) MANE Select	ENSP00000498336.1:n.2565+17T>C
NM_001304508.1:c.174-4240A>G (ZBTB25)	NP_001291437.1:n.174-4240A>G
NM_001364837.1:c.2565+17T>C (MTHFD1)	NP_001351766.1:n.2565+17T>C
NM_005956.3:c.2565+17T>C (MTHFD1)	NP_005947.3:n.2565+17T>C
ENST00000216605.12:c.2565+17T>C (MTHFD1)	ENSP00000216605.8:n.2565+17T>C
ENST00000545908.5:c.2733+17T>C (MTHFD1)	ENSP00000438588.1:n.2733+17T>C
ENST00000545908.6:c.2565+17T>C (MTHFD1)	ENSP00000438588.2:n.2565+17T>C
ENST00000554768.6:c.2322+17T>C (MTHFD1)	ENSP00000477501.2:n.2322+17T>C
ENST00000555220.5:c.174-4240A>G (ZBTB25)	ENSP00000450718.1:n.174-4240A>G
ENST00000555424.1:c.257-4240A>G (ZBTB25)	ENSP00000451046.1:n.257-4240A>G
ENST00000556284.1:n.230+17T>C (MTHFD1)
ENST00000557370.2:c.120+17T>C (MTHFD1)	ENSP00000477199.1:n.120+17T>C
ENST00000557370.3:c.2565+17T>C (MTHFD1)	ENSP00000477199.2:n.2565+17T>C
ENST00000557539.2:c.2322+17T>C (MTHFD1)	ENSP00000476468.2:n.2322+17T>C
ENST00000650853.1:n.3681+17T>C (MTHFD1)
ENST00000651537.1:c.2565+17T>C (MTHFD1)	ENSP00000498511.1:n.2565+17T>C
ENST00000651891.1:n.552+17T>C (MTHFD1)
ENST00000652179.1:c.2322+17T>C (MTHFD1)	ENSP00000498649.1:n.2322+17T>C
ENST00000652509.1:c.1691-845T>C (MTHFD1)
ENST00000697166.1:n.2714+17T>C (MTHFD1)
ENST00000697167.1:c.*1249+17T>C (MTHFD1)	ENSP00000513155.1:n.*1249+17T>C
ENST00000697168.1:c.2565+17T>C (MTHFD1)	ENSP00000513156.1:n.2565+17T>C
ENST00000697169.1:c.*566+17T>C (MTHFD1)	ENSP00000513157.1:n.*566+17T>C
ENST00000697170.1:n.3729+17T>C (MTHFD1)
ENST00000697171.1:c.2576+6T>C (MTHFD1)	ENSP00000513158.1:n.2576+6T>C
ENST00000697173.1:c.2322+17T>C (MTHFD1)	ENSP00000513159.1:n.2322+17T>C
ENST00000697174.1:c.2316+17T>C (MTHFD1)	ENSP00000513160.1:n.2316+17T>C
ENST00000697175.1:c.*1361+17T>C (MTHFD1)	ENSP00000513161.1:n.*1361+17T>C
ENST00000697176.1:c.2144+17T>C (MTHFD1)	ENSP00000513162.1:n.2144+17T>C
ENST00000697177.1:n.1020+17T>C (MTHFD1)
XM_006720250.2:c.1493-4240A>G (ZBTB25)	XP_006720313.1:n.1493-4240A>G
XM_006720250.4:c.1493-4240A>G (ZBTB25)	XP_006720313.1:n.1493-4240A>G