Canonical Allele Identifier: CA367887704
Community Standard Title: NM_000501.4(ELN):c.1768G>A (p.Ala590Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74061121G>A , CM000669.2:g.74061121G>A GRCh38
NC_000007.13:g.73475451G>A , CM000669.1:g.73475451G>A GRCh37
NC_000007.12:g.73113387G>A NCBI36
NG_009261.1:g.38025G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1768G>A (ELN) MANE Select NP_000492.2:p.Ala590Thr
ENST00000252034.12:c.1768G>A (ELN) MANE Select ENSP00000252034.7:p.Ala590Thr
NM_000501.3:c.1768G>A (ELN) NP_000492.2:p.Ala590Thr
NM_001081752.2:c.1681G>A (ELN) NP_001075221.1:p.Ala561Thr
NM_001081752.3:c.1681G>A (ELN) NP_001075221.1:p.Ala561Thr
NM_001081753.2:c.1726G>A (ELN) NP_001075222.1:p.Ala576Thr
NM_001081753.3:c.1726G>A (ELN) NP_001075222.1:p.Ala576Thr
NM_001081754.2:c.1783G>A (ELN) NP_001075223.1:p.Ala595Thr
NM_001081754.3:c.1783G>A (ELN) NP_001075223.1:p.Ala595Thr
NM_001081755.2:c.1711G>A (ELN) NP_001075224.1:p.Ala571Thr
NM_001081755.3:c.1711G>A (ELN) NP_001075224.1:p.Ala571Thr
NM_001278912.1:c.1768G>A (ELN) NP_001265841.1:p.Ala590Thr
NM_001278912.2:c.1768G>A (ELN) NP_001265841.1:p.Ala590Thr
NM_001278913.1:c.1525G>A (ELN) NP_001265842.1:p.Ala509Thr
NM_001278913.2:c.1525G>A (ELN) NP_001265842.1:p.Ala509Thr
NM_001278914.1:c.1696G>A (ELN) NP_001265843.1:p.Ala566Thr
NM_001278914.2:c.1696G>A (ELN) NP_001265843.1:p.Ala566Thr
NM_001278915.1:c.1786G>A (ELN) NP_001265844.1:p.Ala596Thr
NM_001278915.2:c.1786G>A (ELN) NP_001265844.1:p.Ala596Thr
NM_001278916.1:c.1624G>A (ELN) NP_001265845.1:p.Ala542Thr
NM_001278916.2:c.1624G>A (ELN) NP_001265845.1:p.Ala542Thr
NM_001278917.1:c.1738G>A (ELN) NP_001265846.1:p.Ala580Thr
NM_001278917.2:c.1738G>A (ELN) NP_001265846.1:p.Ala580Thr
NM_001278918.1:c.1501G>A (ELN) NP_001265847.1:p.Ala501Thr
NM_001278918.2:c.1501G>A (ELN) NP_001265847.1:p.Ala501Thr
NM_001278939.1:c.1954G>A (ELN) NP_001265868.1:p.Ala652Thr
NM_001278939.2:c.1954G>A (ELN) NP_001265868.1:p.Ala652Thr
ENST00000252034.11:c.1768G>A (ELN) ENSP00000252034.7:p.Ala590Thr
ENST00000320399.10:c.1867G>A (ELN) ENSP00000313565.6:p.Ala623Thr
ENST00000320492.11:c.1525G>A (ELN) ENSP00000315607.7:p.Ala509Thr
ENST00000357036.9:c.1783G>A (ELN) ENSP00000349540.5:p.Ala595Thr
ENST00000358929.8:c.1954G>A (ELN) ENSP00000351807.5:p.Ala652Thr
ENST00000380553.8:c.1360G>A (ELN) ENSP00000369926.4:p.Ala454Thr
ENST00000380562.8:c.1786G>A (ELN) ENSP00000369936.4:p.Ala596Thr
ENST00000380575.8:c.1681G>A (ELN) ENSP00000369949.4:p.Ala561Thr
ENST00000380576.9:c.1711G>A (ELN) ENSP00000369950.5:p.Ala571Thr
ENST00000380584.8:c.1624G>A (ELN) ENSP00000369958.4:p.Ala542Thr
ENST00000414324.5:c.1696G>A (ELN) ENSP00000392575.1:p.Ala566Thr
ENST00000429192.5:c.1726G>A (ELN) ENSP00000391129.1:p.Ala576Thr
ENST00000445912.5:c.1768G>A (ELN) ENSP00000389857.1:p.Ala590Thr
ENST00000458204.5:c.1738G>A (ELN) ENSP00000403162.1:p.Ala580Thr
ENST00000621115.4:c.1501G>A (ELN) ENSP00000480955.1:p.Ala501Thr
ENST00000692049.1:c.1954G>A (ELN) ENSP00000510104.1:p.Ala652Thr
XM_005250187.1:c.1732G>A (ELN) XP_005250244.1:p.Ala578Thr
XM_005250187.2:c.1732G>A (ELN) XP_005250244.1:p.Ala578Thr
XM_005250188.1:c.1726G>A (ELN) XP_005250245.1:p.Ala576Thr
XM_005250188.2:c.1726G>A (ELN) XP_005250245.1:p.Ala576Thr
XM_011515868.1:c.1783G>A (ELN) XP_011514170.1:p.Ala595Thr
XM_011515868.2:c.1783G>A (ELN) XP_011514170.1:p.Ala595Thr
XM_011515869.1:c.1753G>A (ELN) XP_011514171.1:p.Ala585Thr
XM_011515870.1:c.1747G>A (ELN) XP_011514172.1:p.Ala583Thr
XM_011515871.1:c.1741G>A (ELN) XP_011514173.1:p.Ala581Thr
XM_011515871.2:c.1741G>A (ELN) XP_011514173.1:p.Ala581Thr
XM_011515872.1:c.1729G>A (ELN) XP_011514174.1:p.Ala577Thr
XM_011515872.2:c.1729G>A (ELN) XP_011514174.1:p.Ala577Thr
XM_011515873.1:c.1726G>A (ELN) XP_011514175.1:p.Ala576Thr
XM_011515873.2:c.1726G>A (ELN) XP_011514175.1:p.Ala576Thr
XM_011515874.1:c.1717G>A (ELN) XP_011514176.1:p.Ala573Thr
XM_011515875.1:c.1702G>A (ELN) XP_011514177.1:p.Ala568Thr
XM_011515875.2:c.1702G>A (ELN) XP_011514177.1:p.Ala568Thr
XM_011515876.1:c.1783G>A (ELN) XP_011514178.1:p.Ala595Thr
XM_011515876.2:c.1783G>A (ELN) XP_011514178.1:p.Ala595Thr
XM_011515877.1:c.1672G>A (ELN) XP_011514179.1:p.Ala558Thr
XM_011515877.2:c.1672G>A (ELN) XP_011514179.1:p.Ala558Thr
XM_017011813.1:c.1696G>A (ELN) XP_016867302.1:p.Ala566Thr
XM_017011814.2:c.1684G>A (ELN) XP_016867303.1:p.Ala562Thr
XR_001745243.1:n.76-1089C>T (ELN-AS1)