Canonical Allele Identifier: CA374411449

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108878728T>G , CM000671.2:g.108878728T>G	GRCh38
NC_000009.11:g.111641008T>G , CM000671.1:g.111641008T>G	GRCh37
NC_000009.10:g.110680829T>G	NCBI36
NG_008788.1:g.60601A>C , LRG_251:g.60601A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3595A>C MANE Select	NP_003631.2:p.Lys1199Gln
ENST00000374647.10:c.3595A>C MANE Select	ENSP00000363779.5:p.Lys1199Gln
NM_001318360.1:c.3253A>C	NP_001305289.1:p.Lys1085Gln
NM_001318360.2:c.3253A>C	NP_001305289.1:p.Lys1085Gln
NM_001330749.1:c.2548A>C	NP_001317678.1:p.Lys850Gln
NM_001330749.2:c.2548A>C	NP_001317678.1:p.Lys850Gln
NM_003640.3:c.3595A>C , LRG_251t1:c.3595A>C	NP_003631.2:p.Lys1199Gln
NM_003640.4:c.3595A>C	NP_003631.2:p.Lys1199Gln
ENST00000374647.9:c.3595A>C	ENSP00000363779.5:p.Lys1199Gln
ENST00000495759.5:c.735A>C
ENST00000495759.6:c.*2205A>C	ENSP00000433514.2:n.*2205A>C
ENST00000537196.1:c.2548A>C	ENSP00000439367.1:p.Lys850Gln
ENST00000674535.1:c.3595A>C	ENSP00000502142.1:p.Lys1199Gln
ENST00000674704.1:n.6680A>C
ENST00000674740.1:n.478A>C
ENST00000674836.1:n.4208A>C
ENST00000674890.1:c.*830A>C	ENSP00000501870.1:n.*830A>C
ENST00000674938.1:c.3253A>C	ENSP00000502427.1:p.Lys1085Gln
ENST00000674948.1:c.3253A>C	ENSP00000501602.1:p.Lys1085Gln
ENST00000675052.1:c.3595A>C	ENSP00000502664.1:p.Lys1199Gln
ENST00000675062.1:n.641A>C
ENST00000675078.1:c.3595A>C	ENSP00000501549.1:p.Lys1199Gln
ENST00000675215.1:c.*2819A>C	ENSP00000502558.1:n.*2819A>C
ENST00000675233.1:n.5422A>C
ENST00000675321.1:c.3483A>C	ENSP00000502751.1:p.Glu1161Asp
ENST00000675325.1:n.5552A>C
ENST00000675335.1:c.3626A>C	ENSP00000502182.1:n.3626A>C
ENST00000675370.1:n.261A>C
ENST00000675400.1:n.5447A>C
ENST00000675406.1:c.3595A>C	ENSP00000501893.1:p.Lys1199Gln
ENST00000675458.1:c.3688A>C	ENSP00000501754.1:n.3688A>C
ENST00000675507.1:n.5391A>C
ENST00000675535.1:c.*1222A>C	ENSP00000501667.1:n.*1222A>C
ENST00000675566.1:n.5453A>C
ENST00000675580.1:n.748A>C
ENST00000675602.1:n.6643A>C
ENST00000675647.1:n.4759A>C
ENST00000675711.1:c.3712A>C	ENSP00000502485.1:n.3712A>C
ENST00000675727.1:c.3595A>C	ENSP00000501722.1:p.Lys1199Gln
ENST00000675748.1:n.5229A>C
ENST00000675765.1:c.*978A>C	ENSP00000502640.1:n.*978A>C
ENST00000675825.1:c.3637A>C	ENSP00000502632.1:p.Lys1213Gln
ENST00000675877.1:n.5439A>C
ENST00000675893.1:c.*4664A>C	ENSP00000502001.1:n.*4664A>C
ENST00000675943.1:n.7210A>C
ENST00000675979.1:c.*2838A>C	ENSP00000502208.1:n.*2838A>C
ENST00000676044.1:c.*1255A>C	ENSP00000502378.1:n.*1255A>C
ENST00000676086.1:n.5380A>C
ENST00000676121.1:n.5423A>C
ENST00000676162.1:n.324A>C
ENST00000676237.1:c.3538A>C	ENSP00000501828.1:p.Lys1180Gln
ENST00000676416.1:c.3295A>C	ENSP00000501660.1:p.Lys1099Gln
ENST00000676424.1:n.5433A>C
ENST00000676429.1:n.8064A>C
XM_005252285.2:c.3253A>C	XP_005252342.1:p.Lys1085Gln
XM_011519136.1:c.3637A>C	XP_011517438.1:p.Lys1213Gln
XM_011519136.2:c.3637A>C	XP_011517438.1:p.Lys1213Gln
XM_011519137.1:c.3295A>C	XP_011517439.1:p.Lys1099Gln
XR_929859.3:n.3984A>C