Canonical Allele Identifier: CA367889353
Gene: ELN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74063173C>G , CM000669.2:g.74063173C>G GRCh38
NC_000007.13:g.73477503C>G , CM000669.1:g.73477503C>G GRCh37
NC_000007.12:g.73115439C>G NCBI36
NG_009261.1:g.40077C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.1993C>G ENSP00000510104.1:p.Leu665Val
ENST00000252034.12:c.1807C>G MANE Select ENSP00000252034.7:p.Leu603Val
ENST00000252034.11:c.1807C>G ENSP00000252034.7:p.Leu603Val
ENST00000320399.10:c.1906C>G ENSP00000313565.6:p.Leu636Val
ENST00000320492.11:c.1564C>G ENSP00000315607.7:p.Leu522Val
ENST00000357036.9:c.1822C>G ENSP00000349540.5:p.Leu608Val
ENST00000358929.8:c.1993C>G ENSP00000351807.5:p.Leu665Val
ENST00000380553.8:c.1399C>G ENSP00000369926.4:p.Leu467Val
ENST00000380562.8:c.1825C>G ENSP00000369936.4:p.Leu609Val
ENST00000380575.8:c.1720C>G ENSP00000369949.4:p.Leu574Val
ENST00000380576.9:c.1750C>G ENSP00000369950.5:p.Leu584Val
ENST00000380584.8:c.1663C>G ENSP00000369958.4:p.Leu555Val
ENST00000414324.5:c.1735C>G ENSP00000392575.1:p.Leu579Val
ENST00000429192.5:c.1765C>G ENSP00000391129.1:p.Leu589Val
ENST00000445912.5:c.1807C>G ENSP00000389857.1:p.Leu603Val
ENST00000458204.5:c.1777C>G ENSP00000403162.1:p.Leu593Val
ENST00000621115.4:c.1540C>G ENSP00000480955.1:p.Leu514Val
NM_000501.3:c.1807C>G NP_000492.2:p.Leu603Val
NM_001081752.2:c.1720C>G NP_001075221.1:p.Leu574Val
NM_001081753.2:c.1765C>G NP_001075222.1:p.Leu589Val
NM_001081754.2:c.1822C>G NP_001075223.1:p.Leu608Val
NM_001081755.2:c.1750C>G NP_001075224.1:p.Leu584Val
NM_001278912.1:c.1807C>G NP_001265841.1:p.Leu603Val
NM_001278913.1:c.1564C>G NP_001265842.1:p.Leu522Val
NM_001278914.1:c.1735C>G NP_001265843.1:p.Leu579Val
NM_001278915.1:c.1825C>G NP_001265844.1:p.Leu609Val
NM_001278916.1:c.1663C>G NP_001265845.1:p.Leu555Val
NM_001278917.1:c.1777C>G NP_001265846.1:p.Leu593Val
NM_001278918.1:c.1540C>G NP_001265847.1:p.Leu514Val
NM_001278939.1:c.1993C>G NP_001265868.1:p.Leu665Val
XM_005250187.1:c.1771C>G XP_005250244.1:p.Leu591Val
XM_005250188.1:c.1765C>G XP_005250245.1:p.Leu589Val
XM_011515868.1:c.1822C>G XP_011514170.1:p.Leu608Val
XM_011515869.1:c.1792C>G XP_011514171.1:p.Leu598Val
XM_011515870.1:c.1786C>G XP_011514172.1:p.Leu596Val
XM_011515871.1:c.1780C>G XP_011514173.1:p.Leu594Val
XM_011515872.1:c.1768C>G XP_011514174.1:p.Leu590Val
XM_011515873.1:c.1765C>G XP_011514175.1:p.Leu589Val
XM_011515874.1:c.1756C>G XP_011514176.1:p.Leu586Val
XM_011515875.1:c.1741C>G XP_011514177.1:p.Leu581Val
XM_011515876.1:c.1822C>G XP_011514178.1:p.Leu608Val
XM_011515877.1:c.1711C>G XP_011514179.1:p.Leu571Val
XM_005250187.2:c.1771C>G XP_005250244.1:p.Leu591Val
XM_005250188.2:c.1765C>G XP_005250245.1:p.Leu589Val
XM_011515868.2:c.1822C>G XP_011514170.1:p.Leu608Val
XM_011515871.2:c.1780C>G XP_011514173.1:p.Leu594Val
XM_011515872.2:c.1768C>G XP_011514174.1:p.Leu590Val
XM_011515873.2:c.1765C>G XP_011514175.1:p.Leu589Val
XM_011515875.2:c.1741C>G XP_011514177.1:p.Leu581Val
XM_011515876.2:c.1822C>G XP_011514178.1:p.Leu608Val
XM_011515877.2:c.1711C>G XP_011514179.1:p.Leu571Val
XM_017011813.1:c.1735C>G XP_016867302.1:p.Leu579Val
XM_017011814.2:c.1723C>G XP_016867303.1:p.Leu575Val
NM_000501.4:c.1807C>G MANE Select NP_000492.2:p.Leu603Val
NM_001081752.3:c.1720C>G NP_001075221.1:p.Leu574Val
NM_001081753.3:c.1765C>G NP_001075222.1:p.Leu589Val
NM_001081754.3:c.1822C>G NP_001075223.1:p.Leu608Val
NM_001081755.3:c.1750C>G NP_001075224.1:p.Leu584Val
NM_001278912.2:c.1807C>G NP_001265841.1:p.Leu603Val
NM_001278913.2:c.1564C>G NP_001265842.1:p.Leu522Val
NM_001278914.2:c.1735C>G NP_001265843.1:p.Leu579Val
NM_001278915.2:c.1825C>G NP_001265844.1:p.Leu609Val
NM_001278916.2:c.1663C>G NP_001265845.1:p.Leu555Val
NM_001278917.2:c.1777C>G NP_001265846.1:p.Leu593Val
NM_001278918.2:c.1540C>G NP_001265847.1:p.Leu514Val
NM_001278939.2:c.1993C>G NP_001265868.1:p.Leu665Val