Canonical Allele Identifier: CA1672627251

Gene: MTHFD1L

Linked Data

• dbSNP Id: rs17349743

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150892075T>A , CM000668.2:g.150892075T>A	GRCh38
NC_000006.11:g.151213211T>A , CM000668.1:g.151213211T>A	GRCh37
NC_000006.10:g.151254904T>A	NCBI36
NG_029185.1:g.31397T>A
NG_029185.2:g.31397T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367321.8:c.780+4094T>A MANE Select	ENSP00000356290.3:n.780+4094T>A
ENST00000367307.8:c.780+4094T>A	ENSP00000356276.4:n.780+4094T>A
ENST00000367308.8:c.662+4094T>A
ENST00000367321.7:c.780+4094T>A	ENSP00000356290.3:n.780+4094T>A
ENST00000441122.5:c.313+6341T>A	ENSP00000407070.2:n.313+6341T>A
ENST00000611279.4:c.783+4094T>A	ENSP00000478253.1:n.783+4094T>A
ENST00000618312.4:c.585+4094T>A	ENSP00000479539.1:n.585+4094T>A
NM_001242767.1:c.783+4094T>A	NP_001229696.1:n.783+4094T>A
NM_001242768.1:c.585+4094T>A	NP_001229697.1:n.585+4094T>A
NM_001242769.1:c.780+4094T>A	NP_001229698.1:n.780+4094T>A
NM_015440.4:c.780+4094T>A	NP_056255.2:n.780+4094T>A
XM_005266907.3:c.780+4094T>A	XP_005266964.1:n.780+4094T>A
XM_005266910.3:c.783+4094T>A	XP_005266967.1:n.783+4094T>A
XM_005266911.3:c.783+4094T>A	XP_005266968.1:n.783+4094T>A
XM_011535729.1:c.783+4094T>A	XP_011534031.1:n.783+4094T>A
XM_011535730.1:c.585+4094T>A	XP_011534032.1:n.585+4094T>A
XM_011535731.1:c.582+4094T>A	XP_011534033.1:n.582+4094T>A
XM_011535732.1:c.453+4094T>A	XP_011534034.1:n.453+4094T>A
XM_011535733.1:c.453+4094T>A	XP_011534035.1:n.453+4094T>A
XM_011535734.1:c.450+4094T>A	XP_011534036.1:n.450+4094T>A
XM_011535735.1:c.783+4094T>A	XP_011534037.1:n.783+4094T>A
XM_011535736.1:c.783+4094T>A	XP_011534038.1:n.783+4094T>A
XM_011535737.1:c.783+4094T>A	XP_011534039.1:n.783+4094T>A
XM_011535738.1:c.783+4094T>A	XP_011534040.1:n.783+4094T>A
NM_001350486.1:c.582+4094T>A	NP_001337415.1:n.582+4094T>A
NM_001350487.1:c.450+4094T>A	NP_001337416.1:n.450+4094T>A
NM_001350488.1:c.783+4094T>A	NP_001337417.1:n.783+4094T>A
NM_001350489.1:c.643+6341T>A	NP_001337418.1:n.643+6341T>A
NM_001350491.1:c.453+4094T>A	NP_001337420.1:n.453+4094T>A
NM_001350492.1:c.453+4094T>A	NP_001337421.1:n.453+4094T>A
NM_001350493.1:c.453+4094T>A	NP_001337422.1:n.453+4094T>A
NR_146719.1:n.924+4094T>A
NR_146720.1:n.1689+4094T>A
XM_005266907.5:c.780+4094T>A	XP_005266964.1:n.780+4094T>A
XM_005266911.5:c.783+4094T>A	XP_005266968.1:n.783+4094T>A
XM_011535729.3:c.783+4094T>A	XP_011534031.1:n.783+4094T>A
XM_011535730.2:c.585+4094T>A	XP_011534032.1:n.585+4094T>A
XM_011535731.2:c.582+4094T>A	XP_011534033.1:n.582+4094T>A
XM_011535732.2:c.453+4094T>A	XP_011534034.1:n.453+4094T>A
XM_011535733.2:c.453+4094T>A	XP_011534035.1:n.453+4094T>A
XM_011535734.2:c.450+4094T>A	XP_011534036.1:n.450+4094T>A
XM_011535737.3:c.783+4094T>A	XP_011534039.1:n.783+4094T>A
XM_011535738.3:c.783+4094T>A	XP_011534040.1:n.783+4094T>A
XM_017010702.2:c.783+4094T>A	XP_016866191.1:n.783+4094T>A
XM_017010703.2:c.783+4094T>A	XP_016866192.1:n.783+4094T>A
XM_017010705.1:c.450+4094T>A	XP_016866194.1:n.450+4094T>A
XM_024446395.1:c.675+4094T>A	XP_024302163.1:n.675+4094T>A
XM_024446396.1:c.783+4094T>A	XP_024302164.1:n.783+4094T>A
XR_001743322.2:n.922+4094T>A
XR_002956274.1:n.922+4094T>A
NM_001242769.2:c.780+4094T>A	NP_001229698.1:n.780+4094T>A
NM_001350488.2:c.783+4094T>A	NP_001337417.1:n.783+4094T>A
NM_001350489.2:c.643+6341T>A	NP_001337418.1:n.643+6341T>A
NM_001350491.2:c.453+4094T>A	NP_001337420.1:n.453+4094T>A
NM_001242767.2:c.783+4094T>A	NP_001229696.1:n.783+4094T>A
NM_001242768.2:c.585+4094T>A	NP_001229697.1:n.585+4094T>A
NM_001242769.3:c.780+4094T>A	NP_001229698.1:n.780+4094T>A
NM_001350487.2:c.450+4094T>A	NP_001337416.1:n.450+4094T>A
NM_001350488.3:c.783+4094T>A	NP_001337417.1:n.783+4094T>A
NM_001350489.3:c.643+6341T>A	NP_001337418.1:n.643+6341T>A
NM_001350491.3:c.453+4094T>A	NP_001337420.1:n.453+4094T>A
NM_001350492.2:c.453+4094T>A	NP_001337421.1:n.453+4094T>A
NM_015440.5:c.780+4094T>A MANE Select	NP_056255.2:n.780+4094T>A
NR_146719.2:n.901+4094T>A
NR_146720.2:n.1650+4094T>A