Canonical Allele Identifier: CA393280692

Gene: EFL1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.82130527G>C , CM000677.2:g.82130527G>C	GRCh38
NC_000015.9:g.82422868G>C , CM000677.1:g.82422868G>C	GRCh37
NC_000015.8:g.80209923G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024580.6:c.3209C>G MANE Select	NP_078856.4:p.Thr1070Ser
ENST00000268206.12:c.3209C>G MANE Select	ENSP00000268206.7:p.Thr1070Ser
NM_001040610.2:c.3056C>G	NP_001035700.1:p.Thr1019Ser
NM_001040610.3:c.3056C>G	NP_001035700.1:p.Thr1019Ser
NM_001322844.1:c.2420C>G	NP_001309773.1:p.Thr807Ser
NM_001322844.2:c.2420C>G	NP_001309773.1:p.Thr807Ser
NM_001322845.1:c.3209C>G	NP_001309774.1:p.Thr1070Ser
NM_001322845.2:c.3209C>G	NP_001309774.1:p.Thr1070Ser
NM_024580.5:c.3209C>G	NP_078856.4:p.Thr1070Ser
NR_136410.1:n.3392C>G
NR_136410.2:n.3363C>G
ENST00000268206.11:c.3209C>G	ENSP00000268206.7:p.Thr1070Ser
ENST00000359445.7:c.3056C>G	ENSP00000352418.3:p.Thr1019Ser
ENST00000359445.8:c.3056C>G	ENSP00000352418.3:p.Thr1019Ser
ENST00000557939.2:c.3071C>G	ENSP00000452825.2:p.Thr1024Ser
ENST00000561331.2:n.2590C>G
ENST00000561340.2:c.1322C>G	ENSP00000512528.1:p.Thr441Ser
ENST00000561389.2:c.*2947C>G	ENSP00000452687.1:n.*2947C>G
ENST00000650113.1:c.*2115C>G	ENSP00000497919.1:n.*2115C>G
ENST00000696327.1:c.1472C>G	ENSP00000512563.1:p.Thr491Ser
ENST00000696329.1:n.2793C>G
ENST00000696330.1:c.3209C>G	ENSP00000512564.1:p.Thr1070Ser
ENST00000696336.1:c.*163C>G	ENSP00000512568.1:n.*163C>G
ENST00000696337.1:n.3022C>G
XM_011521998.1:c.3209C>G	XP_011520300.1:p.Thr1070Ser
XM_011521999.1:c.2420C>G	XP_011520301.1:p.Thr807Ser
XM_011522000.1:c.2420C>G	XP_011520302.1:p.Thr807Ser
XM_024450048.1:c.1601C>G	XP_024305816.1:p.Thr534Ser
XR_931901.1:n.3392C>G