Canonical Allele Identifier: CA4293366
Community Standard Title: NM_000501.4(ELN):c.2060G>A (p.Gly687Glu)
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74065971G>A , CM000669.2:g.74065971G>A GRCh38
NC_000007.13:g.73480301G>A , CM000669.1:g.73480301G>A GRCh37
NC_000007.12:g.73118237G>A NCBI36
NG_009261.1:g.42875G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.2060G>A MANE Select NP_000492.2:p.Gly687Glu
ENST00000252034.12:c.2060G>A MANE Select ENSP00000252034.7:p.Gly687Glu
NM_000501.3:c.2060G>A NP_000492.2:p.Gly687Glu
NM_001081752.2:c.1945+239G>A NP_001075221.1:n.1945+239G>A
NM_001081752.3:c.1945+239G>A NP_001075221.1:n.1945+239G>A
NM_001081753.2:c.1990+239G>A NP_001075222.1:n.1990+239G>A
NM_001081753.3:c.1990+239G>A NP_001075222.1:n.1990+239G>A
NM_001081754.2:c.2047+239G>A NP_001075223.1:n.2047+239G>A
NM_001081754.3:c.2047+239G>A NP_001075223.1:n.2047+239G>A
NM_001081755.2:c.2003G>A NP_001075224.1:p.Gly668Glu
NM_001081755.3:c.2003G>A NP_001075224.1:p.Gly668Glu
NM_001278912.1:c.2032+239G>A NP_001265841.1:n.2032+239G>A
NM_001278912.2:c.2032+239G>A NP_001265841.1:n.2032+239G>A
NM_001278913.1:c.1817G>A NP_001265842.1:p.Gly606Glu
NM_001278913.2:c.1817G>A NP_001265842.1:p.Gly606Glu
NM_001278914.1:c.1988G>A NP_001265843.1:p.Gly663Glu
NM_001278914.2:c.1988G>A NP_001265843.1:p.Gly663Glu
NM_001278915.1:c.2078G>A NP_001265844.1:p.Gly693Glu
NM_001278915.2:c.2078G>A NP_001265844.1:p.Gly693Glu
NM_001278916.1:c.1888+239G>A NP_001265845.1:n.1888+239G>A
NM_001278916.2:c.1888+239G>A NP_001265845.1:n.1888+239G>A
NM_001278917.1:c.2030G>A NP_001265846.1:p.Gly677Glu
NM_001278917.2:c.2030G>A NP_001265846.1:p.Gly677Glu
NM_001278918.1:c.1765+239G>A NP_001265847.1:n.1765+239G>A
NM_001278918.2:c.1765+239G>A NP_001265847.1:n.1765+239G>A
NM_001278939.1:c.2246G>A NP_001265868.1:p.Gly749Glu
NM_001278939.2:c.2246G>A NP_001265868.1:p.Gly749Glu
ENST00000252034.11:c.2060G>A ENSP00000252034.7:p.Gly687Glu
ENST00000320399.10:c.2159G>A ENSP00000313565.6:p.Gly720Glu
ENST00000320492.11:c.1817G>A ENSP00000315607.7:p.Gly606Glu
ENST00000357036.9:c.2047+239G>A ENSP00000349540.5:n.2047+239G>A
ENST00000358929.8:c.2246G>A ENSP00000351807.5:p.Gly749Glu
ENST00000380553.8:c.1624+239G>A ENSP00000369926.4:n.1624+239G>A
ENST00000380562.8:c.2078G>A ENSP00000369936.4:p.Gly693Glu
ENST00000380575.8:c.1945+239G>A ENSP00000369949.4:n.1945+239G>A
ENST00000380576.9:c.2003G>A ENSP00000369950.5:p.Gly668Glu
ENST00000380584.8:c.1888+239G>A ENSP00000369958.4:n.1888+239G>A
ENST00000414324.5:c.1988G>A ENSP00000392575.1:p.Gly663Glu
ENST00000429192.5:c.1990+239G>A ENSP00000391129.1:n.1990+239G>A
ENST00000445912.5:c.2032+239G>A ENSP00000389857.1:n.2032+239G>A
ENST00000458204.5:c.2030G>A ENSP00000403162.1:p.Gly677Glu
ENST00000621115.4:c.1765+239G>A ENSP00000480955.1:n.1765+239G>A
ENST00000692049.1:c.2246G>A ENSP00000510104.1:p.Gly749Glu
XM_005250187.1:c.2024G>A XP_005250244.1:p.Gly675Glu
XM_005250187.2:c.2024G>A XP_005250244.1:p.Gly675Glu
XM_005250188.1:c.2018G>A XP_005250245.1:p.Gly673Glu
XM_005250188.2:c.2018G>A XP_005250245.1:p.Gly673Glu
XM_011515868.1:c.2075G>A XP_011514170.1:p.Gly692Glu
XM_011515868.2:c.2075G>A XP_011514170.1:p.Gly692Glu
XM_011515869.1:c.2045G>A XP_011514171.1:p.Gly682Glu
XM_011515870.1:c.2039G>A XP_011514172.1:p.Gly680Glu
XM_011515871.1:c.2033G>A XP_011514173.1:p.Gly678Glu
XM_011515871.2:c.2033G>A XP_011514173.1:p.Gly678Glu
XM_011515872.1:c.2021G>A XP_011514174.1:p.Gly674Glu
XM_011515872.2:c.2021G>A XP_011514174.1:p.Gly674Glu
XM_011515873.1:c.2018G>A XP_011514175.1:p.Gly673Glu
XM_011515873.2:c.2018G>A XP_011514175.1:p.Gly673Glu
XM_011515874.1:c.2009G>A XP_011514176.1:p.Gly670Glu
XM_011515875.1:c.1994G>A XP_011514177.1:p.Gly665Glu
XM_011515875.2:c.1994G>A XP_011514177.1:p.Gly665Glu
XM_011515876.1:c.2047+239G>A XP_011514178.1:n.2047+239G>A
XM_011515876.2:c.2047+239G>A XP_011514178.1:n.2047+239G>A
XM_011515877.1:c.1964G>A XP_011514179.1:p.Gly655Glu
XM_011515877.2:c.1964G>A XP_011514179.1:p.Gly655Glu
XM_017011813.1:c.1988G>A XP_016867302.1:p.Gly663Glu
XM_017011814.2:c.1976G>A XP_016867303.1:p.Gly659Glu