Canonical Allele Identifier: CA367890559
Community Standard Title: NM_000501.4(ELN):c.1957G>T (p.Gly653Ter)
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74063659G>T , CM000669.2:g.74063659G>T GRCh38
NC_000007.13:g.73477989G>T , CM000669.1:g.73477989G>T GRCh37
NC_000007.12:g.73115925G>T NCBI36
NG_009261.1:g.40563G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1957G>T MANE Select NP_000492.2:p.Gly653Ter
ENST00000252034.12:c.1957G>T MANE Select ENSP00000252034.7:p.Gly653Ter
NM_000501.3:c.1957G>T NP_000492.2:p.Gly653Ter
NM_001081752.2:c.1870G>T NP_001075221.1:p.Gly624Ter
NM_001081752.3:c.1870G>T NP_001075221.1:p.Gly624Ter
NM_001081753.2:c.1915G>T NP_001075222.1:p.Gly639Ter
NM_001081753.3:c.1915G>T NP_001075222.1:p.Gly639Ter
NM_001081754.2:c.1972G>T NP_001075223.1:p.Gly658Ter
NM_001081754.3:c.1972G>T NP_001075223.1:p.Gly658Ter
NM_001081755.2:c.1900G>T NP_001075224.1:p.Gly634Ter
NM_001081755.3:c.1900G>T NP_001075224.1:p.Gly634Ter
NM_001278912.1:c.1957G>T NP_001265841.1:p.Gly653Ter
NM_001278912.2:c.1957G>T NP_001265841.1:p.Gly653Ter
NM_001278913.1:c.1714G>T NP_001265842.1:p.Gly572Ter
NM_001278913.2:c.1714G>T NP_001265842.1:p.Gly572Ter
NM_001278914.1:c.1885G>T NP_001265843.1:p.Gly629Ter
NM_001278914.2:c.1885G>T NP_001265843.1:p.Gly629Ter
NM_001278915.1:c.1975G>T NP_001265844.1:p.Gly659Ter
NM_001278915.2:c.1975G>T NP_001265844.1:p.Gly659Ter
NM_001278916.1:c.1813G>T NP_001265845.1:p.Gly605Ter
NM_001278916.2:c.1813G>T NP_001265845.1:p.Gly605Ter
NM_001278917.1:c.1927G>T NP_001265846.1:p.Gly643Ter
NM_001278917.2:c.1927G>T NP_001265846.1:p.Gly643Ter
NM_001278918.1:c.1690G>T NP_001265847.1:p.Gly564Ter
NM_001278918.2:c.1690G>T NP_001265847.1:p.Gly564Ter
NM_001278939.1:c.2143G>T NP_001265868.1:p.Gly715Ter
NM_001278939.2:c.2143G>T NP_001265868.1:p.Gly715Ter
ENST00000252034.11:c.1957G>T ENSP00000252034.7:p.Gly653Ter
ENST00000320399.10:c.2056G>T ENSP00000313565.6:p.Gly686Ter
ENST00000320492.11:c.1714G>T ENSP00000315607.7:p.Gly572Ter
ENST00000357036.9:c.1972G>T ENSP00000349540.5:p.Gly658Ter
ENST00000358929.8:c.2143G>T ENSP00000351807.5:p.Gly715Ter
ENST00000380553.8:c.1549G>T ENSP00000369926.4:p.Gly517Ter
ENST00000380562.8:c.1975G>T ENSP00000369936.4:p.Gly659Ter
ENST00000380575.8:c.1870G>T ENSP00000369949.4:p.Gly624Ter
ENST00000380576.9:c.1900G>T ENSP00000369950.5:p.Gly634Ter
ENST00000380584.8:c.1813G>T ENSP00000369958.4:p.Gly605Ter
ENST00000414324.5:c.1885G>T ENSP00000392575.1:p.Gly629Ter
ENST00000429192.5:c.1915G>T ENSP00000391129.1:p.Gly639Ter
ENST00000445912.5:c.1957G>T ENSP00000389857.1:p.Gly653Ter
ENST00000458204.5:c.1927G>T ENSP00000403162.1:p.Gly643Ter
ENST00000621115.4:c.1690G>T ENSP00000480955.1:p.Gly564Ter
ENST00000692049.1:c.2143G>T ENSP00000510104.1:p.Gly715Ter
XM_005250187.1:c.1921G>T XP_005250244.1:p.Gly641Ter
XM_005250187.2:c.1921G>T XP_005250244.1:p.Gly641Ter
XM_005250188.1:c.1915G>T XP_005250245.1:p.Gly639Ter
XM_005250188.2:c.1915G>T XP_005250245.1:p.Gly639Ter
XM_011515868.1:c.1972G>T XP_011514170.1:p.Gly658Ter
XM_011515868.2:c.1972G>T XP_011514170.1:p.Gly658Ter
XM_011515869.1:c.1942G>T XP_011514171.1:p.Gly648Ter
XM_011515870.1:c.1936G>T XP_011514172.1:p.Gly646Ter
XM_011515871.1:c.1930G>T XP_011514173.1:p.Gly644Ter
XM_011515871.2:c.1930G>T XP_011514173.1:p.Gly644Ter
XM_011515872.1:c.1918G>T XP_011514174.1:p.Gly640Ter
XM_011515872.2:c.1918G>T XP_011514174.1:p.Gly640Ter
XM_011515873.1:c.1915G>T XP_011514175.1:p.Gly639Ter
XM_011515873.2:c.1915G>T XP_011514175.1:p.Gly639Ter
XM_011515874.1:c.1906G>T XP_011514176.1:p.Gly636Ter
XM_011515875.1:c.1891G>T XP_011514177.1:p.Gly631Ter
XM_011515875.2:c.1891G>T XP_011514177.1:p.Gly631Ter
XM_011515876.1:c.1972G>T XP_011514178.1:p.Gly658Ter
XM_011515876.2:c.1972G>T XP_011514178.1:p.Gly658Ter
XM_011515877.1:c.1861G>T XP_011514179.1:p.Gly621Ter
XM_011515877.2:c.1861G>T XP_011514179.1:p.Gly621Ter
XM_017011813.1:c.1885G>T XP_016867302.1:p.Gly629Ter
XM_017011814.2:c.1873G>T XP_016867303.1:p.Gly625Ter