Canonical Allele Identifier: CA7697603

Gene: EFL1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.82130531T>C , CM000677.2:g.82130531T>C	GRCh38
NC_000015.9:g.82422872T>C , CM000677.1:g.82422872T>C	GRCh37
NC_000015.8:g.80209927T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024580.6:c.3205A>G MANE Select	NP_078856.4:p.Thr1069Ala
ENST00000268206.12:c.3205A>G MANE Select	ENSP00000268206.7:p.Thr1069Ala
NM_001040610.2:c.3052A>G	NP_001035700.1:p.Thr1018Ala
NM_001040610.3:c.3052A>G	NP_001035700.1:p.Thr1018Ala
NM_001322844.1:c.2416A>G	NP_001309773.1:p.Thr806Ala
NM_001322844.2:c.2416A>G	NP_001309773.1:p.Thr806Ala
NM_001322845.1:c.3205A>G	NP_001309774.1:p.Thr1069Ala
NM_001322845.2:c.3205A>G	NP_001309774.1:p.Thr1069Ala
NM_024580.5:c.3205A>G	NP_078856.4:p.Thr1069Ala
NR_136410.1:n.3388A>G
NR_136410.2:n.3359A>G
ENST00000268206.11:c.3205A>G	ENSP00000268206.7:p.Thr1069Ala
ENST00000359445.7:c.3052A>G	ENSP00000352418.3:p.Thr1018Ala
ENST00000359445.8:c.3052A>G	ENSP00000352418.3:p.Thr1018Ala
ENST00000557939.2:c.3067A>G	ENSP00000452825.2:p.Thr1023Ala
ENST00000561331.2:n.2586A>G
ENST00000561340.2:c.1318A>G	ENSP00000512528.1:p.Thr440Ala
ENST00000561389.2:c.*2943A>G	ENSP00000452687.1:n.*2943A>G
ENST00000650113.1:c.*2111A>G	ENSP00000497919.1:n.*2111A>G
ENST00000696327.1:c.1468A>G	ENSP00000512563.1:p.Thr490Ala
ENST00000696329.1:n.2789A>G
ENST00000696330.1:c.3205A>G	ENSP00000512564.1:p.Thr1069Ala
ENST00000696336.1:c.*159A>G	ENSP00000512568.1:n.*159A>G
ENST00000696337.1:n.3018A>G
XM_011521998.1:c.3205A>G	XP_011520300.1:p.Thr1069Ala
XM_011521999.1:c.2416A>G	XP_011520301.1:p.Thr806Ala
XM_011522000.1:c.2416A>G	XP_011520302.1:p.Thr806Ala
XM_024450048.1:c.1597A>G	XP_024305816.1:p.Thr533Ala
XR_931901.1:n.3388A>G