Canonical Allele Identifier: CA367889406
Gene: ELN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74063182C>G , CM000669.2:g.74063182C>G GRCh38
NC_000007.13:g.73477512C>G , CM000669.1:g.73477512C>G GRCh37
NC_000007.12:g.73115448C>G NCBI36
NG_009261.1:g.40086C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.2002C>G ENSP00000510104.1:p.Leu668Val
ENST00000252034.12:c.1816C>G MANE Select ENSP00000252034.7:p.Leu606Val
ENST00000252034.11:c.1816C>G ENSP00000252034.7:p.Leu606Val
ENST00000320399.10:c.1915C>G ENSP00000313565.6:p.Leu639Val
ENST00000320492.11:c.1573C>G ENSP00000315607.7:p.Leu525Val
ENST00000357036.9:c.1831C>G ENSP00000349540.5:p.Leu611Val
ENST00000358929.8:c.2002C>G ENSP00000351807.5:p.Leu668Val
ENST00000380553.8:c.1408C>G ENSP00000369926.4:p.Leu470Val
ENST00000380562.8:c.1834C>G ENSP00000369936.4:p.Leu612Val
ENST00000380575.8:c.1729C>G ENSP00000369949.4:p.Leu577Val
ENST00000380576.9:c.1759C>G ENSP00000369950.5:p.Leu587Val
ENST00000380584.8:c.1672C>G ENSP00000369958.4:p.Leu558Val
ENST00000414324.5:c.1744C>G ENSP00000392575.1:p.Leu582Val
ENST00000429192.5:c.1774C>G ENSP00000391129.1:p.Leu592Val
ENST00000445912.5:c.1816C>G ENSP00000389857.1:p.Leu606Val
ENST00000458204.5:c.1786C>G ENSP00000403162.1:p.Leu596Val
ENST00000621115.4:c.1549C>G ENSP00000480955.1:p.Leu517Val
NM_000501.3:c.1816C>G NP_000492.2:p.Leu606Val
NM_001081752.2:c.1729C>G NP_001075221.1:p.Leu577Val
NM_001081753.2:c.1774C>G NP_001075222.1:p.Leu592Val
NM_001081754.2:c.1831C>G NP_001075223.1:p.Leu611Val
NM_001081755.2:c.1759C>G NP_001075224.1:p.Leu587Val
NM_001278912.1:c.1816C>G NP_001265841.1:p.Leu606Val
NM_001278913.1:c.1573C>G NP_001265842.1:p.Leu525Val
NM_001278914.1:c.1744C>G NP_001265843.1:p.Leu582Val
NM_001278915.1:c.1834C>G NP_001265844.1:p.Leu612Val
NM_001278916.1:c.1672C>G NP_001265845.1:p.Leu558Val
NM_001278917.1:c.1786C>G NP_001265846.1:p.Leu596Val
NM_001278918.1:c.1549C>G NP_001265847.1:p.Leu517Val
NM_001278939.1:c.2002C>G NP_001265868.1:p.Leu668Val
XM_005250187.1:c.1780C>G XP_005250244.1:p.Leu594Val
XM_005250188.1:c.1774C>G XP_005250245.1:p.Leu592Val
XM_011515868.1:c.1831C>G XP_011514170.1:p.Leu611Val
XM_011515869.1:c.1801C>G XP_011514171.1:p.Leu601Val
XM_011515870.1:c.1795C>G XP_011514172.1:p.Leu599Val
XM_011515871.1:c.1789C>G XP_011514173.1:p.Leu597Val
XM_011515872.1:c.1777C>G XP_011514174.1:p.Leu593Val
XM_011515873.1:c.1774C>G XP_011514175.1:p.Leu592Val
XM_011515874.1:c.1765C>G XP_011514176.1:p.Leu589Val
XM_011515875.1:c.1750C>G XP_011514177.1:p.Leu584Val
XM_011515876.1:c.1831C>G XP_011514178.1:p.Leu611Val
XM_011515877.1:c.1720C>G XP_011514179.1:p.Leu574Val
XM_005250187.2:c.1780C>G XP_005250244.1:p.Leu594Val
XM_005250188.2:c.1774C>G XP_005250245.1:p.Leu592Val
XM_011515868.2:c.1831C>G XP_011514170.1:p.Leu611Val
XM_011515871.2:c.1789C>G XP_011514173.1:p.Leu597Val
XM_011515872.2:c.1777C>G XP_011514174.1:p.Leu593Val
XM_011515873.2:c.1774C>G XP_011514175.1:p.Leu592Val
XM_011515875.2:c.1750C>G XP_011514177.1:p.Leu584Val
XM_011515876.2:c.1831C>G XP_011514178.1:p.Leu611Val
XM_011515877.2:c.1720C>G XP_011514179.1:p.Leu574Val
XM_017011813.1:c.1744C>G XP_016867302.1:p.Leu582Val
XM_017011814.2:c.1732C>G XP_016867303.1:p.Leu578Val
NM_000501.4:c.1816C>G MANE Select NP_000492.2:p.Leu606Val
NM_001081752.3:c.1729C>G NP_001075221.1:p.Leu577Val
NM_001081753.3:c.1774C>G NP_001075222.1:p.Leu592Val
NM_001081754.3:c.1831C>G NP_001075223.1:p.Leu611Val
NM_001081755.3:c.1759C>G NP_001075224.1:p.Leu587Val
NM_001278912.2:c.1816C>G NP_001265841.1:p.Leu606Val
NM_001278913.2:c.1573C>G NP_001265842.1:p.Leu525Val
NM_001278914.2:c.1744C>G NP_001265843.1:p.Leu582Val
NM_001278915.2:c.1834C>G NP_001265844.1:p.Leu612Val
NM_001278916.2:c.1672C>G NP_001265845.1:p.Leu558Val
NM_001278917.2:c.1786C>G NP_001265846.1:p.Leu596Val
NM_001278918.2:c.1549C>G NP_001265847.1:p.Leu517Val
NM_001278939.2:c.2002C>G NP_001265868.1:p.Leu668Val