Canonical Allele Identifier: CA5174920

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108903578A>G , CM000671.2:g.108903578A>G	GRCh38
NC_000009.11:g.111665858A>G , CM000671.1:g.111665858A>G	GRCh37
NC_000009.10:g.110705679A>G	NCBI36
NG_008788.1:g.35751T>C , LRG_251:g.35751T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.1735T>C MANE Select	NP_003631.2:p.Phe579Leu
ENST00000374647.10:c.1735T>C MANE Select	ENSP00000363779.5:p.Phe579Leu
NM_001318360.1:c.1393T>C	NP_001305289.1:p.Phe465Leu
NM_001318360.2:c.1393T>C	NP_001305289.1:p.Phe465Leu
NM_001330749.1:c.688T>C	NP_001317678.1:p.Phe230Leu
NM_001330749.2:c.688T>C	NP_001317678.1:p.Phe230Leu
NM_003640.3:c.1735T>C , LRG_251t1:c.1735T>C	NP_003631.2:p.Phe579Leu
NM_003640.4:c.1735T>C	NP_003631.2:p.Phe579Leu
ENST00000374647.9:c.1735T>C	ENSP00000363779.5:p.Phe579Leu
ENST00000495759.6:c.*345T>C	ENSP00000433514.2:n.*345T>C
ENST00000537196.1:c.688T>C	ENSP00000439367.1:p.Phe230Leu
ENST00000674535.1:c.1735T>C	ENSP00000502142.1:p.Phe579Leu
ENST00000674704.1:n.3542T>C
ENST00000674836.1:n.2040T>C
ENST00000674890.1:c.1735T>C	ENSP00000501870.1:p.Phe579Leu
ENST00000674938.1:c.1393T>C	ENSP00000502427.1:p.Phe465Leu
ENST00000674948.1:c.1393T>C	ENSP00000501602.1:p.Phe465Leu
ENST00000675052.1:c.1735T>C	ENSP00000502664.1:p.Phe579Leu
ENST00000675078.1:c.1735T>C	ENSP00000501549.1:p.Phe579Leu
ENST00000675215.1:c.*959T>C	ENSP00000502558.1:n.*959T>C
ENST00000675233.1:n.3562T>C
ENST00000675321.1:c.1735T>C	ENSP00000502751.1:p.Phe579Leu
ENST00000675325.1:n.3531T>C
ENST00000675335.1:c.1766T>C	ENSP00000502182.1:n.1766T>C
ENST00000675400.1:n.3408T>C
ENST00000675406.1:c.1735T>C	ENSP00000501893.1:p.Phe579Leu
ENST00000675458.1:c.1828T>C	ENSP00000501754.1:n.1828T>C
ENST00000675507.1:n.3531T>C
ENST00000675535.1:c.1735T>C	ENSP00000501667.1:p.Phe579Leu
ENST00000675566.1:n.3531T>C
ENST00000675602.1:n.4783T>C
ENST00000675647.1:n.2040T>C
ENST00000675711.1:c.1735T>C	ENSP00000502485.1:p.Phe579Leu
ENST00000675727.1:c.1735T>C	ENSP00000501722.1:p.Phe579Leu
ENST00000675748.1:n.3369T>C
ENST00000675765.1:c.1735T>C	ENSP00000502640.1:p.Phe579Leu
ENST00000675825.1:c.1735T>C	ENSP00000502632.1:p.Phe579Leu
ENST00000675877.1:n.2040T>C
ENST00000675893.1:c.*2804T>C	ENSP00000502001.1:n.*2804T>C
ENST00000675943.1:n.5350T>C
ENST00000675979.1:c.*978T>C	ENSP00000502208.1:n.*978T>C
ENST00000676044.1:c.1735T>C	ENSP00000502378.1:p.Phe579Leu
ENST00000676086.1:n.3520T>C
ENST00000676121.1:n.3563T>C
ENST00000676237.1:c.1636T>C	ENSP00000501828.1:p.Phe546Leu
ENST00000676416.1:c.1393T>C	ENSP00000501660.1:p.Phe465Leu
ENST00000676424.1:n.3531T>C
ENST00000676429.1:n.6204T>C
XM_005252285.2:c.1393T>C	XP_005252342.1:p.Phe465Leu
XM_011519136.1:c.1735T>C	XP_011517438.1:p.Phe579Leu
XM_011519136.2:c.1735T>C	XP_011517438.1:p.Phe579Leu
XM_011519137.1:c.1393T>C	XP_011517439.1:p.Phe465Leu
XR_929859.1:n.2051T>C
XR_929859.3:n.2062T>C