Canonical Allele Identifier: CA5174187

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108878065G>A , CM000671.2:g.108878065G>A	GRCh38
NC_000009.11:g.111640345G>A , CM000671.1:g.111640345G>A	GRCh37
NC_000009.10:g.110680166G>A	NCBI36
NG_008788.1:g.61264C>T , LRG_251:g.61264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3785C>T MANE Select	ENSP00000363779.5:p.Thr1262Met
ENST00000495759.6:c.*2395C>T	ENSP00000433514.2:n.*2395C>T
ENST00000674535.1:c.3785C>T	ENSP00000502142.1:p.Thr1262Met
ENST00000674704.1:n.6870C>T
ENST00000674740.1:n.668C>T
ENST00000674836.1:n.4398C>T
ENST00000674890.1:c.*1020C>T	ENSP00000501870.1:n.*1020C>T
ENST00000674938.1:c.3443C>T	ENSP00000502427.1:p.Thr1148Met
ENST00000674948.1:c.3443C>T	ENSP00000501602.1:p.Thr1148Met
ENST00000675052.1:c.3785C>T	ENSP00000502664.1:p.Thr1262Met
ENST00000675062.1:n.831C>T
ENST00000675078.1:c.3785C>T	ENSP00000501549.1:p.Thr1262Met
ENST00000675215.1:c.*3009C>T	ENSP00000502558.1:n.*3009C>T
ENST00000675233.1:n.5612C>T
ENST00000675321.1:c.3673C>T	ENSP00000502751.1:n.3673C>T
ENST00000675325.1:n.5742C>T
ENST00000675335.1:c.3816C>T	ENSP00000502182.1:n.3816C>T
ENST00000675370.1:n.451C>T
ENST00000675400.1:n.5637C>T
ENST00000675406.1:c.3785C>T	ENSP00000501893.1:p.Thr1262Met
ENST00000675458.1:c.3878C>T	ENSP00000501754.1:n.3878C>T
ENST00000675507.1:n.5581C>T
ENST00000675535.1:c.*1412C>T	ENSP00000501667.1:n.*1412C>T
ENST00000675566.1:n.5643C>T
ENST00000675580.1:n.938C>T
ENST00000675602.1:n.6833C>T
ENST00000675647.1:n.4949C>T
ENST00000675711.1:c.3902C>T	ENSP00000502485.1:n.3902C>T
ENST00000675727.1:c.3785C>T	ENSP00000501722.1:p.Thr1262Met
ENST00000675748.1:n.5419C>T
ENST00000675765.1:c.*1168C>T	ENSP00000502640.1:n.*1168C>T
ENST00000675825.1:c.3827C>T	ENSP00000502632.1:p.Thr1276Met
ENST00000675877.1:n.5629C>T
ENST00000675893.1:c.*4854C>T	ENSP00000502001.1:n.*4854C>T
ENST00000675943.1:n.7400C>T
ENST00000675979.1:c.*3028C>T	ENSP00000502208.1:n.*3028C>T
ENST00000676044.1:c.*1445C>T	ENSP00000502378.1:n.*1445C>T
ENST00000676086.1:n.5570C>T
ENST00000676121.1:n.5613C>T
ENST00000676162.1:n.514C>T
ENST00000676237.1:c.3728C>T	ENSP00000501828.1:p.Thr1243Met
ENST00000676416.1:c.3485C>T	ENSP00000501660.1:p.Thr1162Met
ENST00000676424.1:n.5623C>T
ENST00000676429.1:n.8254C>T
ENST00000374647.9:c.3785C>T	ENSP00000363779.5:p.Thr1262Met
ENST00000495759.5:c.925C>T
ENST00000537196.1:c.2738C>T	ENSP00000439367.1:p.Thr913Met
NM_003640.3:c.3785C>T , LRG_251t1:c.3785C>T	NP_003631.2:p.Thr1262Met
XM_005252285.2:c.3443C>T	XP_005252342.1:p.Thr1148Met
XM_011519136.1:c.3827C>T	XP_011517438.1:p.Thr1276Met
XM_011519137.1:c.3485C>T	XP_011517439.1:p.Thr1162Met
NM_001318360.1:c.3443C>T	NP_001305289.1:p.Thr1148Met
NM_001330749.1:c.2738C>T	NP_001317678.1:p.Thr913Met
NM_003640.4:c.3785C>T	NP_003631.2:p.Thr1262Met
XM_011519136.2:c.3827C>T	XP_011517438.1:p.Thr1276Met
XR_929859.3:n.4174C>T
NM_003640.5:c.3785C>T MANE Select	NP_003631.2:p.Thr1262Met
NM_001318360.2:c.3443C>T	NP_001305289.1:p.Thr1148Met
NM_001330749.2:c.2738C>T	NP_001317678.1:p.Thr913Met