Canonical Allele Identifier: CA393287117

Gene: EFL1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.82151872C>G , CM000677.2:g.82151872C>G	GRCh38
NC_000015.9:g.82444213C>G , CM000677.1:g.82444213C>G	GRCh37
NC_000015.8:g.80231268C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024580.6:c.2582G>C MANE Select	NP_078856.4:p.Arg861Thr
ENST00000268206.12:c.2582G>C MANE Select	ENSP00000268206.7:p.Arg861Thr
NM_001040610.2:c.2429G>C	NP_001035700.1:p.Arg810Thr
NM_001040610.3:c.2429G>C	NP_001035700.1:p.Arg810Thr
NM_001322844.1:c.1793G>C	NP_001309773.1:p.Arg598Thr
NM_001322844.2:c.1793G>C	NP_001309773.1:p.Arg598Thr
NM_001322845.1:c.2582G>C	NP_001309774.1:p.Arg861Thr
NM_001322845.2:c.2582G>C	NP_001309774.1:p.Arg861Thr
NM_024580.5:c.2582G>C	NP_078856.4:p.Arg861Thr
NR_136410.1:n.2751G>C
NR_136410.2:n.2722G>C
ENST00000268206.11:c.2582G>C	ENSP00000268206.7:p.Arg861Thr
ENST00000359445.7:c.2429G>C	ENSP00000352418.3:p.Arg810Thr
ENST00000359445.8:c.2429G>C	ENSP00000352418.3:p.Arg810Thr
ENST00000557939.2:c.2444G>C	ENSP00000452825.2:p.Arg815Thr
ENST00000561331.2:n.1963G>C
ENST00000561340.2:c.695G>C	ENSP00000512528.1:p.Arg232Thr
ENST00000561389.2:c.*2320G>C	ENSP00000452687.1:n.*2320G>C
ENST00000650113.1:c.*1488G>C	ENSP00000497919.1:n.*1488G>C
ENST00000696327.1:c.845G>C	ENSP00000512563.1:p.Arg282Thr
ENST00000696329.1:n.2166G>C
ENST00000696330.1:c.2582G>C	ENSP00000512564.1:p.Arg861Thr
ENST00000696336.1:c.2582G>C	ENSP00000512568.1:p.Arg861Thr
ENST00000696337.1:n.2395G>C
XM_011521998.1:c.2582G>C	XP_011520300.1:p.Arg861Thr
XM_011521999.1:c.1793G>C	XP_011520301.1:p.Arg598Thr
XM_011522000.1:c.1793G>C	XP_011520302.1:p.Arg598Thr
XM_024450048.1:c.974G>C	XP_024305816.1:p.Arg325Thr
XR_931901.1:n.2751G>C