Canonical Allele Identifier: CA393286459

Gene: EFL1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.82151667C>A , CM000677.2:g.82151667C>A	GRCh38
NC_000015.9:g.82444008C>A , CM000677.1:g.82444008C>A	GRCh37
NC_000015.8:g.80231063C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024580.6:c.2787G>T MANE Select	NP_078856.4:p.Glu929Asp
ENST00000268206.12:c.2787G>T MANE Select	ENSP00000268206.7:p.Glu929Asp
NM_001040610.2:c.2634G>T	NP_001035700.1:p.Glu878Asp
NM_001040610.3:c.2634G>T	NP_001035700.1:p.Glu878Asp
NM_001322844.1:c.1998G>T	NP_001309773.1:p.Glu666Asp
NM_001322844.2:c.1998G>T	NP_001309773.1:p.Glu666Asp
NM_001322845.1:c.2787G>T	NP_001309774.1:p.Glu929Asp
NM_001322845.2:c.2787G>T	NP_001309774.1:p.Glu929Asp
NM_024580.5:c.2787G>T	NP_078856.4:p.Glu929Asp
NR_136410.1:n.2956G>T
NR_136410.2:n.2927G>T
ENST00000268206.11:c.2787G>T	ENSP00000268206.7:p.Glu929Asp
ENST00000359445.7:c.2634G>T	ENSP00000352418.3:p.Glu878Asp
ENST00000359445.8:c.2634G>T	ENSP00000352418.3:p.Glu878Asp
ENST00000557939.2:c.2649G>T	ENSP00000452825.2:p.Glu883Asp
ENST00000561331.2:n.2168G>T
ENST00000561340.2:c.900G>T	ENSP00000512528.1:p.Glu300Asp
ENST00000561389.2:c.*2525G>T	ENSP00000452687.1:n.*2525G>T
ENST00000650113.1:c.*1693G>T	ENSP00000497919.1:n.*1693G>T
ENST00000696327.1:c.1050G>T	ENSP00000512563.1:p.Glu350Asp
ENST00000696329.1:n.2371G>T
ENST00000696330.1:c.2787G>T	ENSP00000512564.1:p.Glu929Asp
ENST00000696336.1:c.2787G>T	ENSP00000512568.1:p.Glu929Asp
ENST00000696337.1:n.2600G>T
XM_011521998.1:c.2787G>T	XP_011520300.1:p.Glu929Asp
XM_011521999.1:c.1998G>T	XP_011520301.1:p.Glu666Asp
XM_011522000.1:c.1998G>T	XP_011520302.1:p.Glu666Asp
XM_024450048.1:c.1179G>T	XP_024305816.1:p.Glu393Asp
XR_931901.1:n.2956G>T