Canonical Allele Identifier: CA1717349029
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74063184C= , CM000669.2:g.74063184C= GRCh38
NC_000007.13:g.73477514C= , CM000669.1:g.73477514C= GRCh37
NC_000007.12:g.73115450C= NCBI36
NG_009261.1:g.40088C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.2004C= ENSP00000510104.1:p.Leu668=
ENST00000252034.12:c.1818C= MANE Select ENSP00000252034.7:p.Leu606=
ENST00000252034.11:c.1818C= ENSP00000252034.7:p.Leu606=
ENST00000320399.10:c.1917C= ENSP00000313565.6:p.Leu639=
ENST00000320492.11:c.1575C= ENSP00000315607.7:p.Leu525=
ENST00000357036.9:c.1833C= ENSP00000349540.5:p.Leu611=
ENST00000358929.8:c.2004C= ENSP00000351807.5:p.Leu668=
ENST00000380553.8:c.1410C= ENSP00000369926.4:p.Leu470=
ENST00000380562.8:c.1836C= ENSP00000369936.4:p.Leu612=
ENST00000380575.8:c.1731C= ENSP00000369949.4:p.Leu577=
ENST00000380576.9:c.1761C= ENSP00000369950.5:p.Leu587=
ENST00000380584.8:c.1674C= ENSP00000369958.4:p.Leu558=
ENST00000414324.5:c.1746C= ENSP00000392575.1:p.Leu582=
ENST00000429192.5:c.1776C= ENSP00000391129.1:p.Leu592=
ENST00000445912.5:c.1818C= ENSP00000389857.1:p.Leu606=
ENST00000458204.5:c.1788C= ENSP00000403162.1:p.Leu596=
ENST00000621115.4:c.1551C= ENSP00000480955.1:p.Leu517=
NM_000501.3:c.1818C= NP_000492.2:p.Leu606=
NM_001081752.2:c.1731C= NP_001075221.1:p.Leu577=
NM_001081753.2:c.1776C= NP_001075222.1:p.Leu592=
NM_001081754.2:c.1833C= NP_001075223.1:p.Leu611=
NM_001081755.2:c.1761C= NP_001075224.1:p.Leu587=
NM_001278912.1:c.1818C= NP_001265841.1:p.Leu606=
NM_001278913.1:c.1575C= NP_001265842.1:p.Leu525=
NM_001278914.1:c.1746C= NP_001265843.1:p.Leu582=
NM_001278915.1:c.1836C= NP_001265844.1:p.Leu612=
NM_001278916.1:c.1674C= NP_001265845.1:p.Leu558=
NM_001278917.1:c.1788C= NP_001265846.1:p.Leu596=
NM_001278918.1:c.1551C= NP_001265847.1:p.Leu517=
NM_001278939.1:c.2004C= NP_001265868.1:p.Leu668=
XM_005250187.1:c.1782C= XP_005250244.1:p.Leu594=
XM_005250188.1:c.1776C= XP_005250245.1:p.Leu592=
XM_011515868.1:c.1833C= XP_011514170.1:p.Leu611=
XM_011515869.1:c.1803C= XP_011514171.1:p.Leu601=
XM_011515870.1:c.1797C= XP_011514172.1:p.Leu599=
XM_011515871.1:c.1791C= XP_011514173.1:p.Leu597=
XM_011515872.1:c.1779C= XP_011514174.1:p.Leu593=
XM_011515873.1:c.1776C= XP_011514175.1:p.Leu592=
XM_011515874.1:c.1767C= XP_011514176.1:p.Leu589=
XM_011515875.1:c.1752C= XP_011514177.1:p.Leu584=
XM_011515876.1:c.1833C= XP_011514178.1:p.Leu611=
XM_011515877.1:c.1722C= XP_011514179.1:p.Leu574=
XM_005250187.2:c.1782C= XP_005250244.1:p.Leu594=
XM_005250188.2:c.1776C= XP_005250245.1:p.Leu592=
XM_011515868.2:c.1833C= XP_011514170.1:p.Leu611=
XM_011515871.2:c.1791C= XP_011514173.1:p.Leu597=
XM_011515872.2:c.1779C= XP_011514174.1:p.Leu593=
XM_011515873.2:c.1776C= XP_011514175.1:p.Leu592=
XM_011515875.2:c.1752C= XP_011514177.1:p.Leu584=
XM_011515876.2:c.1833C= XP_011514178.1:p.Leu611=
XM_011515877.2:c.1722C= XP_011514179.1:p.Leu574=
XM_017011813.1:c.1746C= XP_016867302.1:p.Leu582=
XM_017011814.2:c.1734C= XP_016867303.1:p.Leu578=
NM_000501.4:c.1818C= MANE Select NP_000492.2:p.Leu606=
NM_001081752.3:c.1731C= NP_001075221.1:p.Leu577=
NM_001081753.3:c.1776C= NP_001075222.1:p.Leu592=
NM_001081754.3:c.1833C= NP_001075223.1:p.Leu611=
NM_001081755.3:c.1761C= NP_001075224.1:p.Leu587=
NM_001278912.2:c.1818C= NP_001265841.1:p.Leu606=
NM_001278913.2:c.1575C= NP_001265842.1:p.Leu525=
NM_001278914.2:c.1746C= NP_001265843.1:p.Leu582=
NM_001278915.2:c.1836C= NP_001265844.1:p.Leu612=
NM_001278916.2:c.1674C= NP_001265845.1:p.Leu558=
NM_001278917.2:c.1788C= NP_001265846.1:p.Leu596=
NM_001278918.2:c.1551C= NP_001265847.1:p.Leu517=
NM_001278939.2:c.2004C= NP_001265868.1:p.Leu668=