Canonical Allele Identifier: CA4335495

Gene: MTERF1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.91874103C>T , CM000669.2:g.91874103C>T	GRCh38
NC_000007.13:g.91503417C>T , CM000669.1:g.91503417C>T	GRCh37
NC_000007.12:g.91341353C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351870.8:c.691G>A MANE Select	ENSP00000248643.3:p.Ala231Thr
ENST00000351870.7:c.691G>A	ENSP00000248643.3:p.Ala231Thr
ENST00000406735.6:c.631G>A	ENSP00000384986.2:p.Ala211Thr
ENST00000419292.1:c.631G>A	ENSP00000414116.1:p.Ala211Thr
ENST00000454222.5:n.93+5952G>A
NM_001301134.1:c.631G>A	NP_001288063.1:p.Ala211Thr
NM_001301135.1:c.631G>A	NP_001288064.1:p.Ala211Thr
NM_006980.4:c.691G>A	NP_008911.1:p.Ala231Thr
XM_005250593.2:c.691G>A	XP_005250650.1:p.Ala231Thr
XM_006716126.2:c.691G>A	XP_006716189.1:p.Ala231Thr
XM_005250593.3:c.691G>A	XP_005250650.1:p.Ala231Thr
XM_006716126.3:c.691G>A	XP_006716189.1:p.Ala231Thr
XM_017012620.1:c.631G>A	XP_016868109.1:p.Ala211Thr
NM_001301134.2:c.631G>A	NP_001288063.1:p.Ala211Thr
NM_001301135.2:c.631G>A	NP_001288064.1:p.Ala211Thr
NM_006980.5:c.691G>A MANE Select	NP_008911.1:p.Ala231Thr