Canonical Allele Identifier: CA1717344160
Community Standard Title: NM_000501.4(ELN):c.1324C= (p.Gln442=)
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74056680C= , CM000669.2:g.74056680C= GRCh38
NC_000007.13:g.73471010C= , CM000669.1:g.73471010C= GRCh37
NC_000007.12:g.73108946C= NCBI36
NG_009261.1:g.33584C=

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1324C= MANE Select NP_000492.2:p.Gln442=
ENST00000252034.12:c.1324C= MANE Select ENSP00000252034.7:p.Gln442=
NM_000501.3:c.1324C= NP_000492.2:p.Gln442=
NM_001081752.2:c.1294C= NP_001075221.1:p.Gln432=
NM_001081752.3:c.1294C= NP_001075221.1:p.Gln432=
NM_001081753.2:c.1339C= NP_001075222.1:p.Gln447=
NM_001081753.3:c.1339C= NP_001075222.1:p.Gln447=
NM_001081754.2:c.1339C= NP_001075223.1:p.Gln447=
NM_001081754.3:c.1339C= NP_001075223.1:p.Gln447=
NM_001081755.2:c.1324C= NP_001075224.1:p.Gln442=
NM_001081755.3:c.1324C= NP_001075224.1:p.Gln442=
NM_001278912.1:c.1324C= NP_001265841.1:p.Gln442=
NM_001278912.2:c.1324C= NP_001265841.1:p.Gln442=
NM_001278913.1:c.1138C= NP_001265842.1:p.Gln380=
NM_001278913.2:c.1138C= NP_001265842.1:p.Gln380=
NM_001278914.1:c.1309C= NP_001265843.1:p.Gln437=
NM_001278914.2:c.1309C= NP_001265843.1:p.Gln437=
NM_001278915.1:c.1324C= NP_001265844.1:p.Gln442=
NM_001278915.2:c.1324C= NP_001265844.1:p.Gln442=
NM_001278916.1:c.1282C= NP_001265845.1:p.Gln428=
NM_001278916.2:c.1282C= NP_001265845.1:p.Gln428=
NM_001278917.1:c.1294C= NP_001265846.1:p.Gln432=
NM_001278917.2:c.1294C= NP_001265846.1:p.Gln432=
NM_001278918.1:c.1114C= NP_001265847.1:p.Gln372=
NM_001278918.2:c.1114C= NP_001265847.1:p.Gln372=
NM_001278939.1:c.1324C= NP_001265868.1:p.Gln442=
NM_001278939.2:c.1324C= NP_001265868.1:p.Gln442=
ENST00000252034.11:c.1324C= ENSP00000252034.7:p.Gln442=
ENST00000320399.10:c.1324C= ENSP00000313565.6:p.Gln442=
ENST00000320492.11:c.1138C= ENSP00000315607.7:p.Gln380=
ENST00000357036.9:c.1339C= ENSP00000349540.5:p.Gln447=
ENST00000358929.8:c.1324C= ENSP00000351807.5:p.Gln442=
ENST00000380553.8:c.973C= ENSP00000369926.4:p.Gln325=
ENST00000380562.8:c.1324C= ENSP00000369936.4:p.Gln442=
ENST00000380575.8:c.1294C= ENSP00000369949.4:p.Gln432=
ENST00000380576.9:c.1324C= ENSP00000369950.5:p.Gln442=
ENST00000380584.8:c.1282C= ENSP00000369958.4:p.Gln428=
ENST00000414324.5:c.1309C= ENSP00000392575.1:p.Gln437=
ENST00000429192.5:c.1339C= ENSP00000391129.1:p.Gln447=
ENST00000445912.5:c.1324C= ENSP00000389857.1:p.Gln442=
ENST00000458204.5:c.1294C= ENSP00000403162.1:p.Gln432=
ENST00000621115.4:c.1114C= ENSP00000480955.1:p.Gln372=
ENST00000692049.1:c.1324C= ENSP00000510104.1:p.Gln442=
XM_005250187.1:c.1288C= XP_005250244.1:p.Gln430=
XM_005250187.2:c.1288C= XP_005250244.1:p.Gln430=
XM_005250188.1:c.1282C= XP_005250245.1:p.Gln428=
XM_005250188.2:c.1282C= XP_005250245.1:p.Gln428=
XM_011515868.1:c.1339C= XP_011514170.1:p.Gln447=
XM_011515868.2:c.1339C= XP_011514170.1:p.Gln447=
XM_011515869.1:c.1309C= XP_011514171.1:p.Gln437=
XM_011515870.1:c.1303C= XP_011514172.1:p.Gln435=
XM_011515871.1:c.1297C= XP_011514173.1:p.Gln433=
XM_011515871.2:c.1297C= XP_011514173.1:p.Gln433=
XM_011515872.1:c.1285C= XP_011514174.1:p.Gln429=
XM_011515872.2:c.1285C= XP_011514174.1:p.Gln429=
XM_011515873.1:c.1339C= XP_011514175.1:p.Gln447=
XM_011515873.2:c.1339C= XP_011514175.1:p.Gln447=
XM_011515874.1:c.1273C= XP_011514176.1:p.Gln425=
XM_011515875.1:c.1258C= XP_011514177.1:p.Gln420=
XM_011515875.2:c.1258C= XP_011514177.1:p.Gln420=
XM_011515876.1:c.1339C= XP_011514178.1:p.Gln447=
XM_011515876.2:c.1339C= XP_011514178.1:p.Gln447=
XM_011515877.1:c.1285C= XP_011514179.1:p.Gln429=
XM_011515877.2:c.1285C= XP_011514179.1:p.Gln429=
XM_017011813.1:c.1252C= XP_016867302.1:p.Gln418=
XM_017011814.2:c.1297C= XP_016867303.1:p.Gln433=