Canonical Allele Identifier: CA7697670

Gene: EFL1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.82151490G>A , CM000677.2:g.82151490G>A	GRCh38
NC_000015.9:g.82443831G>A , CM000677.1:g.82443831G>A	GRCh37
NC_000015.8:g.80230886G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024580.6:c.2964C>T MANE Select	NP_078856.4:p.Asp988=
ENST00000268206.12:c.2964C>T MANE Select	ENSP00000268206.7:p.Asp988=
NM_001040610.2:c.2811C>T	NP_001035700.1:p.Asp937=
NM_001040610.3:c.2811C>T	NP_001035700.1:p.Asp937=
NM_001322844.1:c.2175C>T	NP_001309773.1:p.Asp725=
NM_001322844.2:c.2175C>T	NP_001309773.1:p.Asp725=
NM_001322845.1:c.2964C>T	NP_001309774.1:p.Asp988=
NM_001322845.2:c.2964C>T	NP_001309774.1:p.Asp988=
NM_024580.5:c.2964C>T	NP_078856.4:p.Asp988=
NR_136410.1:n.3133C>T
NR_136410.2:n.3104C>T
ENST00000268206.11:c.2964C>T	ENSP00000268206.7:p.Asp988=
ENST00000359445.7:c.2811C>T	ENSP00000352418.3:p.Asp937=
ENST00000359445.8:c.2811C>T	ENSP00000352418.3:p.Asp937=
ENST00000557939.2:c.2826C>T	ENSP00000452825.2:p.Asp942=
ENST00000561331.2:n.2345C>T
ENST00000561340.2:c.1077C>T	ENSP00000512528.1:p.Asp359=
ENST00000561389.2:c.*2702C>T	ENSP00000452687.1:n.*2702C>T
ENST00000650113.1:c.*1870C>T	ENSP00000497919.1:n.*1870C>T
ENST00000696327.1:c.1227C>T	ENSP00000512563.1:p.Asp409=
ENST00000696329.1:n.2548C>T
ENST00000696330.1:c.2964C>T	ENSP00000512564.1:p.Asp988=
ENST00000696336.1:c.2964C>T	ENSP00000512568.1:p.Asp988=
ENST00000696337.1:n.2777C>T
XM_011521998.1:c.2964C>T	XP_011520300.1:p.Asp988=
XM_011521999.1:c.2175C>T	XP_011520301.1:p.Asp725=
XM_011522000.1:c.2175C>T	XP_011520302.1:p.Asp725=
XM_024450048.1:c.1356C>T	XP_024305816.1:p.Asp452=
XR_931901.1:n.3133C>T