Canonical Allele Identifier: CA367882066
Community Standard Title: NM_000501.4(ELN):c.1351A>T (p.Lys451Ter)
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74056707A>T , CM000669.2:g.74056707A>T GRCh38
NC_000007.13:g.73471037A>T , CM000669.1:g.73471037A>T GRCh37
NC_000007.12:g.73108973A>T NCBI36
NG_009261.1:g.33611A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1351A>T MANE Select NP_000492.2:p.Lys451Ter
ENST00000252034.12:c.1351A>T MANE Select ENSP00000252034.7:p.Lys451Ter
NM_000501.3:c.1351A>T NP_000492.2:p.Lys451Ter
NM_001081752.2:c.1321A>T NP_001075221.1:p.Lys441Ter
NM_001081752.3:c.1321A>T NP_001075221.1:p.Lys441Ter
NM_001081753.2:c.1366A>T NP_001075222.1:p.Lys456Ter
NM_001081753.3:c.1366A>T NP_001075222.1:p.Lys456Ter
NM_001081754.2:c.1366A>T NP_001075223.1:p.Lys456Ter
NM_001081754.3:c.1366A>T NP_001075223.1:p.Lys456Ter
NM_001081755.2:c.1351A>T NP_001075224.1:p.Lys451Ter
NM_001081755.3:c.1351A>T NP_001075224.1:p.Lys451Ter
NM_001278912.1:c.1351A>T NP_001265841.1:p.Lys451Ter
NM_001278912.2:c.1351A>T NP_001265841.1:p.Lys451Ter
NM_001278913.1:c.1165A>T NP_001265842.1:p.Lys389Ter
NM_001278913.2:c.1165A>T NP_001265842.1:p.Lys389Ter
NM_001278914.1:c.1336A>T NP_001265843.1:p.Lys446Ter
NM_001278914.2:c.1336A>T NP_001265843.1:p.Lys446Ter
NM_001278915.1:c.1351A>T NP_001265844.1:p.Lys451Ter
NM_001278915.2:c.1351A>T NP_001265844.1:p.Lys451Ter
NM_001278916.1:c.1309A>T NP_001265845.1:p.Lys437Ter
NM_001278916.2:c.1309A>T NP_001265845.1:p.Lys437Ter
NM_001278917.1:c.1321A>T NP_001265846.1:p.Lys441Ter
NM_001278917.2:c.1321A>T NP_001265846.1:p.Lys441Ter
NM_001278918.1:c.1141A>T NP_001265847.1:p.Lys381Ter
NM_001278918.2:c.1141A>T NP_001265847.1:p.Lys381Ter
NM_001278939.1:c.1351A>T NP_001265868.1:p.Lys451Ter
NM_001278939.2:c.1351A>T NP_001265868.1:p.Lys451Ter
ENST00000252034.11:c.1351A>T ENSP00000252034.7:p.Lys451Ter
ENST00000320399.10:c.1351A>T ENSP00000313565.6:p.Lys451Ter
ENST00000320492.11:c.1165A>T ENSP00000315607.7:p.Lys389Ter
ENST00000357036.9:c.1366A>T ENSP00000349540.5:p.Lys456Ter
ENST00000358929.8:c.1351A>T ENSP00000351807.5:p.Lys451Ter
ENST00000380553.8:c.1000A>T ENSP00000369926.4:p.Lys334Ter
ENST00000380562.8:c.1351A>T ENSP00000369936.4:p.Lys451Ter
ENST00000380575.8:c.1321A>T ENSP00000369949.4:p.Lys441Ter
ENST00000380576.9:c.1351A>T ENSP00000369950.5:p.Lys451Ter
ENST00000380584.8:c.1309A>T ENSP00000369958.4:p.Lys437Ter
ENST00000414324.5:c.1336A>T ENSP00000392575.1:p.Lys446Ter
ENST00000429192.5:c.1366A>T ENSP00000391129.1:p.Lys456Ter
ENST00000445912.5:c.1351A>T ENSP00000389857.1:p.Lys451Ter
ENST00000458204.5:c.1321A>T ENSP00000403162.1:p.Lys441Ter
ENST00000621115.4:c.1141A>T ENSP00000480955.1:p.Lys381Ter
ENST00000692049.1:c.1351A>T ENSP00000510104.1:p.Lys451Ter
XM_005250187.1:c.1315A>T XP_005250244.1:p.Lys439Ter
XM_005250187.2:c.1315A>T XP_005250244.1:p.Lys439Ter
XM_005250188.1:c.1309A>T XP_005250245.1:p.Lys437Ter
XM_005250188.2:c.1309A>T XP_005250245.1:p.Lys437Ter
XM_011515868.1:c.1366A>T XP_011514170.1:p.Lys456Ter
XM_011515868.2:c.1366A>T XP_011514170.1:p.Lys456Ter
XM_011515869.1:c.1336A>T XP_011514171.1:p.Lys446Ter
XM_011515870.1:c.1330A>T XP_011514172.1:p.Lys444Ter
XM_011515871.1:c.1324A>T XP_011514173.1:p.Lys442Ter
XM_011515871.2:c.1324A>T XP_011514173.1:p.Lys442Ter
XM_011515872.1:c.1312A>T XP_011514174.1:p.Lys438Ter
XM_011515872.2:c.1312A>T XP_011514174.1:p.Lys438Ter
XM_011515873.1:c.1366A>T XP_011514175.1:p.Lys456Ter
XM_011515873.2:c.1366A>T XP_011514175.1:p.Lys456Ter
XM_011515874.1:c.1300A>T XP_011514176.1:p.Lys434Ter
XM_011515875.1:c.1285A>T XP_011514177.1:p.Lys429Ter
XM_011515875.2:c.1285A>T XP_011514177.1:p.Lys429Ter
XM_011515876.1:c.1366A>T XP_011514178.1:p.Lys456Ter
XM_011515876.2:c.1366A>T XP_011514178.1:p.Lys456Ter
XM_011515877.1:c.1312A>T XP_011514179.1:p.Lys438Ter
XM_011515877.2:c.1312A>T XP_011514179.1:p.Lys438Ter
XM_017011813.1:c.1279A>T XP_016867302.1:p.Lys427Ter
XM_017011814.2:c.1324A>T XP_016867303.1:p.Lys442Ter