Canonical Allele Identifier: CA4292947
Community Standard Title: NM_000501.4(ELN):c.1322C>T (p.Ala441Val)
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74056678C>T , CM000669.2:g.74056678C>T GRCh38
NC_000007.13:g.73471008C>T , CM000669.1:g.73471008C>T GRCh37
NC_000007.12:g.73108944C>T NCBI36
NG_009261.1:g.33582C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1322C>T MANE Select NP_000492.2:p.Ala441Val
ENST00000252034.12:c.1322C>T MANE Select ENSP00000252034.7:p.Ala441Val
NM_000501.3:c.1322C>T NP_000492.2:p.Ala441Val
NM_001081752.2:c.1292C>T NP_001075221.1:p.Ala431Val
NM_001081752.3:c.1292C>T NP_001075221.1:p.Ala431Val
NM_001081753.2:c.1337C>T NP_001075222.1:p.Ala446Val
NM_001081753.3:c.1337C>T NP_001075222.1:p.Ala446Val
NM_001081754.2:c.1337C>T NP_001075223.1:p.Ala446Val
NM_001081754.3:c.1337C>T NP_001075223.1:p.Ala446Val
NM_001081755.2:c.1322C>T NP_001075224.1:p.Ala441Val
NM_001081755.3:c.1322C>T NP_001075224.1:p.Ala441Val
NM_001278912.1:c.1322C>T NP_001265841.1:p.Ala441Val
NM_001278912.2:c.1322C>T NP_001265841.1:p.Ala441Val
NM_001278913.1:c.1136C>T NP_001265842.1:p.Ala379Val
NM_001278913.2:c.1136C>T NP_001265842.1:p.Ala379Val
NM_001278914.1:c.1307C>T NP_001265843.1:p.Ala436Val
NM_001278914.2:c.1307C>T NP_001265843.1:p.Ala436Val
NM_001278915.1:c.1322C>T NP_001265844.1:p.Ala441Val
NM_001278915.2:c.1322C>T NP_001265844.1:p.Ala441Val
NM_001278916.1:c.1280C>T NP_001265845.1:p.Ala427Val
NM_001278916.2:c.1280C>T NP_001265845.1:p.Ala427Val
NM_001278917.1:c.1292C>T NP_001265846.1:p.Ala431Val
NM_001278917.2:c.1292C>T NP_001265846.1:p.Ala431Val
NM_001278918.1:c.1112C>T NP_001265847.1:p.Ala371Val
NM_001278918.2:c.1112C>T NP_001265847.1:p.Ala371Val
NM_001278939.1:c.1322C>T NP_001265868.1:p.Ala441Val
NM_001278939.2:c.1322C>T NP_001265868.1:p.Ala441Val
ENST00000252034.11:c.1322C>T ENSP00000252034.7:p.Ala441Val
ENST00000320399.10:c.1322C>T ENSP00000313565.6:p.Ala441Val
ENST00000320492.11:c.1136C>T ENSP00000315607.7:p.Ala379Val
ENST00000357036.9:c.1337C>T ENSP00000349540.5:p.Ala446Val
ENST00000358929.8:c.1322C>T ENSP00000351807.5:p.Ala441Val
ENST00000380553.8:c.971C>T ENSP00000369926.4:p.Ala324Val
ENST00000380562.8:c.1322C>T ENSP00000369936.4:p.Ala441Val
ENST00000380575.8:c.1292C>T ENSP00000369949.4:p.Ala431Val
ENST00000380576.9:c.1322C>T ENSP00000369950.5:p.Ala441Val
ENST00000380584.8:c.1280C>T ENSP00000369958.4:p.Ala427Val
ENST00000414324.5:c.1307C>T ENSP00000392575.1:p.Ala436Val
ENST00000429192.5:c.1337C>T ENSP00000391129.1:p.Ala446Val
ENST00000445912.5:c.1322C>T ENSP00000389857.1:p.Ala441Val
ENST00000458204.5:c.1292C>T ENSP00000403162.1:p.Ala431Val
ENST00000621115.4:c.1112C>T ENSP00000480955.1:p.Ala371Val
ENST00000692049.1:c.1322C>T ENSP00000510104.1:p.Ala441Val
XM_005250187.1:c.1286C>T XP_005250244.1:p.Ala429Val
XM_005250187.2:c.1286C>T XP_005250244.1:p.Ala429Val
XM_005250188.1:c.1280C>T XP_005250245.1:p.Ala427Val
XM_005250188.2:c.1280C>T XP_005250245.1:p.Ala427Val
XM_011515868.1:c.1337C>T XP_011514170.1:p.Ala446Val
XM_011515868.2:c.1337C>T XP_011514170.1:p.Ala446Val
XM_011515869.1:c.1307C>T XP_011514171.1:p.Ala436Val
XM_011515870.1:c.1301C>T XP_011514172.1:p.Ala434Val
XM_011515871.1:c.1295C>T XP_011514173.1:p.Ala432Val
XM_011515871.2:c.1295C>T XP_011514173.1:p.Ala432Val
XM_011515872.1:c.1283C>T XP_011514174.1:p.Ala428Val
XM_011515872.2:c.1283C>T XP_011514174.1:p.Ala428Val
XM_011515873.1:c.1337C>T XP_011514175.1:p.Ala446Val
XM_011515873.2:c.1337C>T XP_011514175.1:p.Ala446Val
XM_011515874.1:c.1271C>T XP_011514176.1:p.Ala424Val
XM_011515875.1:c.1256C>T XP_011514177.1:p.Ala419Val
XM_011515875.2:c.1256C>T XP_011514177.1:p.Ala419Val
XM_011515876.1:c.1337C>T XP_011514178.1:p.Ala446Val
XM_011515876.2:c.1337C>T XP_011514178.1:p.Ala446Val
XM_011515877.1:c.1283C>T XP_011514179.1:p.Ala428Val
XM_011515877.2:c.1283C>T XP_011514179.1:p.Ala428Val
XM_017011813.1:c.1250C>T XP_016867302.1:p.Ala417Val
XM_017011814.2:c.1295C>T XP_016867303.1:p.Ala432Val