Canonical Allele Identifier: CA367887804
Community Standard Title: NM_000501.4(ELN):c.1781A>T (p.Lys594Ile)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74061134A>T , CM000669.2:g.74061134A>T GRCh38
NC_000007.13:g.73475464A>T , CM000669.1:g.73475464A>T GRCh37
NC_000007.12:g.73113400A>T NCBI36
NG_009261.1:g.38038A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1781A>T (ELN) MANE Select NP_000492.2:p.Lys594Ile
ENST00000252034.12:c.1781A>T (ELN) MANE Select ENSP00000252034.7:p.Lys594Ile
NM_000501.3:c.1781A>T (ELN) NP_000492.2:p.Lys594Ile
NM_001081752.2:c.1694A>T (ELN) NP_001075221.1:p.Lys565Ile
NM_001081752.3:c.1694A>T (ELN) NP_001075221.1:p.Lys565Ile
NM_001081753.2:c.1739A>T (ELN) NP_001075222.1:p.Lys580Ile
NM_001081753.3:c.1739A>T (ELN) NP_001075222.1:p.Lys580Ile
NM_001081754.2:c.1796A>T (ELN) NP_001075223.1:p.Lys599Ile
NM_001081754.3:c.1796A>T (ELN) NP_001075223.1:p.Lys599Ile
NM_001081755.2:c.1724A>T (ELN) NP_001075224.1:p.Lys575Ile
NM_001081755.3:c.1724A>T (ELN) NP_001075224.1:p.Lys575Ile
NM_001278912.1:c.1781A>T (ELN) NP_001265841.1:p.Lys594Ile
NM_001278912.2:c.1781A>T (ELN) NP_001265841.1:p.Lys594Ile
NM_001278913.1:c.1538A>T (ELN) NP_001265842.1:p.Lys513Ile
NM_001278913.2:c.1538A>T (ELN) NP_001265842.1:p.Lys513Ile
NM_001278914.1:c.1709A>T (ELN) NP_001265843.1:p.Lys570Ile
NM_001278914.2:c.1709A>T (ELN) NP_001265843.1:p.Lys570Ile
NM_001278915.1:c.1799A>T (ELN) NP_001265844.1:p.Lys600Ile
NM_001278915.2:c.1799A>T (ELN) NP_001265844.1:p.Lys600Ile
NM_001278916.1:c.1637A>T (ELN) NP_001265845.1:p.Lys546Ile
NM_001278916.2:c.1637A>T (ELN) NP_001265845.1:p.Lys546Ile
NM_001278917.1:c.1751A>T (ELN) NP_001265846.1:p.Lys584Ile
NM_001278917.2:c.1751A>T (ELN) NP_001265846.1:p.Lys584Ile
NM_001278918.1:c.1514A>T (ELN) NP_001265847.1:p.Lys505Ile
NM_001278918.2:c.1514A>T (ELN) NP_001265847.1:p.Lys505Ile
NM_001278939.1:c.1967A>T (ELN) NP_001265868.1:p.Lys656Ile
NM_001278939.2:c.1967A>T (ELN) NP_001265868.1:p.Lys656Ile
ENST00000252034.11:c.1781A>T (ELN) ENSP00000252034.7:p.Lys594Ile
ENST00000320399.10:c.1880A>T (ELN) ENSP00000313565.6:p.Lys627Ile
ENST00000320492.11:c.1538A>T (ELN) ENSP00000315607.7:p.Lys513Ile
ENST00000357036.9:c.1796A>T (ELN) ENSP00000349540.5:p.Lys599Ile
ENST00000358929.8:c.1967A>T (ELN) ENSP00000351807.5:p.Lys656Ile
ENST00000380553.8:c.1373A>T (ELN) ENSP00000369926.4:p.Lys458Ile
ENST00000380562.8:c.1799A>T (ELN) ENSP00000369936.4:p.Lys600Ile
ENST00000380575.8:c.1694A>T (ELN) ENSP00000369949.4:p.Lys565Ile
ENST00000380576.9:c.1724A>T (ELN) ENSP00000369950.5:p.Lys575Ile
ENST00000380584.8:c.1637A>T (ELN) ENSP00000369958.4:p.Lys546Ile
ENST00000414324.5:c.1709A>T (ELN) ENSP00000392575.1:p.Lys570Ile
ENST00000429192.5:c.1739A>T (ELN) ENSP00000391129.1:p.Lys580Ile
ENST00000445912.5:c.1781A>T (ELN) ENSP00000389857.1:p.Lys594Ile
ENST00000458204.5:c.1751A>T (ELN) ENSP00000403162.1:p.Lys584Ile
ENST00000621115.4:c.1514A>T (ELN) ENSP00000480955.1:p.Lys505Ile
ENST00000692049.1:c.1967A>T (ELN) ENSP00000510104.1:p.Lys656Ile
XM_005250187.1:c.1745A>T (ELN) XP_005250244.1:p.Lys582Ile
XM_005250187.2:c.1745A>T (ELN) XP_005250244.1:p.Lys582Ile
XM_005250188.1:c.1739A>T (ELN) XP_005250245.1:p.Lys580Ile
XM_005250188.2:c.1739A>T (ELN) XP_005250245.1:p.Lys580Ile
XM_011515868.1:c.1796A>T (ELN) XP_011514170.1:p.Lys599Ile
XM_011515868.2:c.1796A>T (ELN) XP_011514170.1:p.Lys599Ile
XM_011515869.1:c.1766A>T (ELN) XP_011514171.1:p.Lys589Ile
XM_011515870.1:c.1760A>T (ELN) XP_011514172.1:p.Lys587Ile
XM_011515871.1:c.1754A>T (ELN) XP_011514173.1:p.Lys585Ile
XM_011515871.2:c.1754A>T (ELN) XP_011514173.1:p.Lys585Ile
XM_011515872.1:c.1742A>T (ELN) XP_011514174.1:p.Lys581Ile
XM_011515872.2:c.1742A>T (ELN) XP_011514174.1:p.Lys581Ile
XM_011515873.1:c.1739A>T (ELN) XP_011514175.1:p.Lys580Ile
XM_011515873.2:c.1739A>T (ELN) XP_011514175.1:p.Lys580Ile
XM_011515874.1:c.1730A>T (ELN) XP_011514176.1:p.Lys577Ile
XM_011515875.1:c.1715A>T (ELN) XP_011514177.1:p.Lys572Ile
XM_011515875.2:c.1715A>T (ELN) XP_011514177.1:p.Lys572Ile
XM_011515876.1:c.1796A>T (ELN) XP_011514178.1:p.Lys599Ile
XM_011515876.2:c.1796A>T (ELN) XP_011514178.1:p.Lys599Ile
XM_011515877.1:c.1685A>T (ELN) XP_011514179.1:p.Lys562Ile
XM_011515877.2:c.1685A>T (ELN) XP_011514179.1:p.Lys562Ile
XM_017011813.1:c.1709A>T (ELN) XP_016867302.1:p.Lys570Ile
XM_017011814.2:c.1697A>T (ELN) XP_016867303.1:p.Lys566Ile
XR_001745243.1:n.75+1076T>A (ELN-AS1)