Canonical Allele Identifier: CA374428723

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108911081A>T , CM000671.2:g.108911081A>T	GRCh38
NC_000009.11:g.111673361A>T , CM000671.1:g.111673361A>T	GRCh37
NC_000009.10:g.110713182A>T	NCBI36
NG_008788.1:g.28248T>A , LRG_251:g.28248T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.1289T>A MANE Select	NP_003631.2:p.Leu430Ter
ENST00000374647.10:c.1289T>A MANE Select	ENSP00000363779.5:p.Leu430Ter
NM_001318360.1:c.947T>A	NP_001305289.1:p.Leu316Ter
NM_001318360.2:c.947T>A	NP_001305289.1:p.Leu316Ter
NM_001330749.1:c.242T>A	NP_001317678.1:p.Leu81Ter
NM_001330749.2:c.242T>A	NP_001317678.1:p.Leu81Ter
NM_003640.3:c.1289T>A , LRG_251t1:c.1289T>A	NP_003631.2:p.Leu430Ter
NM_003640.4:c.1289T>A	NP_003631.2:p.Leu430Ter
ENST00000374647.9:c.1289T>A	ENSP00000363779.5:p.Leu430Ter
ENST00000495759.6:c.553-2677T>A	ENSP00000433514.2:n.553-2677T>A
ENST00000537196.1:c.242T>A	ENSP00000439367.1:p.Leu81Ter
ENST00000674535.1:c.1289T>A	ENSP00000502142.1:p.Leu430Ter
ENST00000674704.1:n.3096T>A
ENST00000674836.1:n.1594T>A
ENST00000674890.1:c.1289T>A	ENSP00000501870.1:p.Leu430Ter
ENST00000674938.1:c.947T>A	ENSP00000502427.1:p.Leu316Ter
ENST00000674948.1:c.947T>A	ENSP00000501602.1:p.Leu316Ter
ENST00000675052.1:c.1289T>A	ENSP00000502664.1:p.Leu430Ter
ENST00000675078.1:c.1289T>A	ENSP00000501549.1:p.Leu430Ter
ENST00000675215.1:c.*513T>A	ENSP00000502558.1:n.*513T>A
ENST00000675233.1:n.3116T>A
ENST00000675321.1:c.1289T>A	ENSP00000502751.1:p.Leu430Ter
ENST00000675325.1:n.3085T>A
ENST00000675335.1:c.1320T>A	ENSP00000502182.1:p.Leu440=
ENST00000675400.1:n.2962T>A
ENST00000675406.1:c.1289T>A	ENSP00000501893.1:p.Leu430Ter
ENST00000675458.1:c.1382T>A	ENSP00000501754.1:n.1382T>A
ENST00000675507.1:n.3085T>A
ENST00000675535.1:c.1289T>A	ENSP00000501667.1:p.Leu430Ter
ENST00000675566.1:n.3085T>A
ENST00000675602.1:n.4337T>A
ENST00000675647.1:n.1594T>A
ENST00000675711.1:c.1289T>A	ENSP00000502485.1:p.Leu430Ter
ENST00000675727.1:c.1289T>A	ENSP00000501722.1:p.Leu430Ter
ENST00000675748.1:n.2923T>A
ENST00000675765.1:c.1289T>A	ENSP00000502640.1:p.Leu430Ter
ENST00000675825.1:c.1289T>A	ENSP00000502632.1:p.Leu430Ter
ENST00000675877.1:n.1594T>A
ENST00000675893.1:c.*2358T>A	ENSP00000502001.1:n.*2358T>A
ENST00000675943.1:n.3085T>A
ENST00000675979.1:c.*532T>A	ENSP00000502208.1:n.*532T>A
ENST00000676044.1:c.1289T>A	ENSP00000502378.1:p.Leu430Ter
ENST00000676086.1:n.3085T>A
ENST00000676121.1:n.3117T>A
ENST00000676237.1:c.1190T>A	ENSP00000501828.1:p.Leu397Ter
ENST00000676416.1:c.947T>A	ENSP00000501660.1:p.Leu316Ter
ENST00000676424.1:n.3085T>A
ENST00000676429.1:n.5758T>A
XM_005252285.2:c.947T>A	XP_005252342.1:p.Leu316Ter
XM_011519136.1:c.1289T>A	XP_011517438.1:p.Leu430Ter
XM_011519136.2:c.1289T>A	XP_011517438.1:p.Leu430Ter
XM_011519137.1:c.947T>A	XP_011517439.1:p.Leu316Ter
XR_929859.1:n.1605T>A
XR_929859.3:n.1616T>A