Canonical Allele Identifier: CA4293277
Community Standard Title: NM_000501.4(ELN):c.1879G>A (p.Ala627Thr)
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74063330G>A , CM000669.2:g.74063330G>A GRCh38
NC_000007.13:g.73477660G>A , CM000669.1:g.73477660G>A GRCh37
NC_000007.12:g.73115596G>A NCBI36
NG_009261.1:g.40234G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1879G>A MANE Select NP_000492.2:p.Ala627Thr
ENST00000252034.12:c.1879G>A MANE Select ENSP00000252034.7:p.Ala627Thr
NM_000501.3:c.1879G>A NP_000492.2:p.Ala627Thr
NM_001081752.2:c.1792G>A NP_001075221.1:p.Ala598Thr
NM_001081752.3:c.1792G>A NP_001075221.1:p.Ala598Thr
NM_001081753.2:c.1837G>A NP_001075222.1:p.Ala613Thr
NM_001081753.3:c.1837G>A NP_001075222.1:p.Ala613Thr
NM_001081754.2:c.1894G>A NP_001075223.1:p.Ala632Thr
NM_001081754.3:c.1894G>A NP_001075223.1:p.Ala632Thr
NM_001081755.2:c.1822G>A NP_001075224.1:p.Ala608Thr
NM_001081755.3:c.1822G>A NP_001075224.1:p.Ala608Thr
NM_001278912.1:c.1879G>A NP_001265841.1:p.Ala627Thr
NM_001278912.2:c.1879G>A NP_001265841.1:p.Ala627Thr
NM_001278913.1:c.1636G>A NP_001265842.1:p.Ala546Thr
NM_001278913.2:c.1636G>A NP_001265842.1:p.Ala546Thr
NM_001278914.1:c.1807G>A NP_001265843.1:p.Ala603Thr
NM_001278914.2:c.1807G>A NP_001265843.1:p.Ala603Thr
NM_001278915.1:c.1897G>A NP_001265844.1:p.Ala633Thr
NM_001278915.2:c.1897G>A NP_001265844.1:p.Ala633Thr
NM_001278916.1:c.1735G>A NP_001265845.1:p.Ala579Thr
NM_001278916.2:c.1735G>A NP_001265845.1:p.Ala579Thr
NM_001278917.1:c.1849G>A NP_001265846.1:p.Ala617Thr
NM_001278917.2:c.1849G>A NP_001265846.1:p.Ala617Thr
NM_001278918.1:c.1612G>A NP_001265847.1:p.Ala538Thr
NM_001278918.2:c.1612G>A NP_001265847.1:p.Ala538Thr
NM_001278939.1:c.2065G>A NP_001265868.1:p.Ala689Thr
NM_001278939.2:c.2065G>A NP_001265868.1:p.Ala689Thr
ENST00000252034.11:c.1879G>A ENSP00000252034.7:p.Ala627Thr
ENST00000320399.10:c.1978G>A ENSP00000313565.6:p.Ala660Thr
ENST00000320492.11:c.1636G>A ENSP00000315607.7:p.Ala546Thr
ENST00000357036.9:c.1894G>A ENSP00000349540.5:p.Ala632Thr
ENST00000358929.8:c.2065G>A ENSP00000351807.5:p.Ala689Thr
ENST00000380553.8:c.1471G>A ENSP00000369926.4:p.Ala491Thr
ENST00000380562.8:c.1897G>A ENSP00000369936.4:p.Ala633Thr
ENST00000380575.8:c.1792G>A ENSP00000369949.4:p.Ala598Thr
ENST00000380576.9:c.1822G>A ENSP00000369950.5:p.Ala608Thr
ENST00000380584.8:c.1735G>A ENSP00000369958.4:p.Ala579Thr
ENST00000414324.5:c.1807G>A ENSP00000392575.1:p.Ala603Thr
ENST00000429192.5:c.1837G>A ENSP00000391129.1:p.Ala613Thr
ENST00000445912.5:c.1879G>A ENSP00000389857.1:p.Ala627Thr
ENST00000458204.5:c.1849G>A ENSP00000403162.1:p.Ala617Thr
ENST00000621115.4:c.1612G>A ENSP00000480955.1:p.Ala538Thr
ENST00000692049.1:c.2065G>A ENSP00000510104.1:p.Ala689Thr
XM_005250187.1:c.1843G>A XP_005250244.1:p.Ala615Thr
XM_005250187.2:c.1843G>A XP_005250244.1:p.Ala615Thr
XM_005250188.1:c.1837G>A XP_005250245.1:p.Ala613Thr
XM_005250188.2:c.1837G>A XP_005250245.1:p.Ala613Thr
XM_011515868.1:c.1894G>A XP_011514170.1:p.Ala632Thr
XM_011515868.2:c.1894G>A XP_011514170.1:p.Ala632Thr
XM_011515869.1:c.1864G>A XP_011514171.1:p.Ala622Thr
XM_011515870.1:c.1858G>A XP_011514172.1:p.Ala620Thr
XM_011515871.1:c.1852G>A XP_011514173.1:p.Ala618Thr
XM_011515871.2:c.1852G>A XP_011514173.1:p.Ala618Thr
XM_011515872.1:c.1840G>A XP_011514174.1:p.Ala614Thr
XM_011515872.2:c.1840G>A XP_011514174.1:p.Ala614Thr
XM_011515873.1:c.1837G>A XP_011514175.1:p.Ala613Thr
XM_011515873.2:c.1837G>A XP_011514175.1:p.Ala613Thr
XM_011515874.1:c.1828G>A XP_011514176.1:p.Ala610Thr
XM_011515875.1:c.1813G>A XP_011514177.1:p.Ala605Thr
XM_011515875.2:c.1813G>A XP_011514177.1:p.Ala605Thr
XM_011515876.1:c.1894G>A XP_011514178.1:p.Ala632Thr
XM_011515876.2:c.1894G>A XP_011514178.1:p.Ala632Thr
XM_011515877.1:c.1783G>A XP_011514179.1:p.Ala595Thr
XM_011515877.2:c.1783G>A XP_011514179.1:p.Ala595Thr
XM_017011813.1:c.1807G>A XP_016867302.1:p.Ala603Thr
XM_017011814.2:c.1795G>A XP_016867303.1:p.Ala599Thr