Canonical Allele Identifier: CA1672720411

Gene: MTHFD1L

Linked Data

• dbSNP Id: rs7646

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151101614A>C , CM000668.2:g.151101614A>C	GRCh38
NC_000006.11:g.151422750A>C , CM000668.1:g.151422750A>C	GRCh37
NC_000006.10:g.151464443A>C	NCBI36
NG_029185.1:g.240936A>C
NG_029185.2:g.240936A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367321.8:c.*120A>C MANE Select	ENSP00000356290.3:n.*120A>C
ENST00000367321.7:c.*120A>C	ENSP00000356290.3:n.*120A>C
ENST00000611279.4:c.*120A>C	ENSP00000478253.1:n.*120A>C
ENST00000618312.4:c.*120A>C	ENSP00000479539.1:n.*120A>C
NM_001242767.1:c.*120A>C	NP_001229696.1:n.*120A>C
NM_001242768.1:c.*120A>C	NP_001229697.1:n.*120A>C
NM_015440.4:c.*120A>C	NP_056255.2:n.*120A>C
XR_943112.1:n.509-13234T>G
NM_001350486.1:c.*120A>C	NP_001337415.1:n.*120A>C
NM_001350487.1:c.*120A>C	NP_001337416.1:n.*120A>C
NM_001350490.1:c.*120A>C	NP_001337419.1:n.*120A>C
NM_001350492.1:c.*120A>C	NP_001337421.1:n.*120A>C
NM_001350493.1:c.*120A>C	NP_001337422.1:n.*120A>C
NR_146719.1:n.3304A>C
NR_146720.1:n.4125A>C
XM_024446395.1:c.*120A>C	XP_024302163.1:n.*120A>C
XR_002956274.1:n.3325A>C
NM_001242767.2:c.*120A>C	NP_001229696.1:n.*120A>C
NM_001242768.2:c.*120A>C	NP_001229697.1:n.*120A>C
NM_001350487.2:c.*120A>C	NP_001337416.1:n.*120A>C
NM_001350492.2:c.*120A>C	NP_001337421.1:n.*120A>C
NM_015440.5:c.*120A>C MANE Select	NP_056255.2:n.*120A>C
NR_146719.2:n.3281A>C
NR_146720.2:n.4086A>C