Canonical Allele Identifier: CA16605456

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108894013A>G , CM000671.2:g.108894013A>G	GRCh38
NC_000009.11:g.111656293A>G , CM000671.1:g.111656293A>G	GRCh37
NC_000009.10:g.110696114A>G	NCBI36
NG_008788.1:g.45316T>C , LRG_251:g.45316T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2790T>C MANE Select	ENSP00000363779.5:p.Asn930=
ENST00000495759.6:c.*1400T>C	ENSP00000433514.2:n.*1400T>C
ENST00000674535.1:c.2790T>C	ENSP00000502142.1:p.Asn930=
ENST00000674704.1:n.5875T>C
ENST00000674836.1:n.3403T>C
ENST00000674890.1:c.*25T>C	ENSP00000501870.1:n.*25T>C
ENST00000674938.1:c.2448T>C	ENSP00000502427.1:p.Asn816=
ENST00000674948.1:c.2448T>C	ENSP00000501602.1:p.Asn816=
ENST00000675052.1:c.2790T>C	ENSP00000502664.1:p.Asn930=
ENST00000675078.1:c.2790T>C	ENSP00000501549.1:p.Asn930=
ENST00000675215.1:c.*2014T>C	ENSP00000502558.1:n.*2014T>C
ENST00000675233.1:n.4617T>C
ENST00000675321.1:c.2790T>C	ENSP00000502751.1:p.Asn930=
ENST00000675325.1:n.4747T>C
ENST00000675335.1:c.2821T>C	ENSP00000502182.1:n.2821T>C
ENST00000675400.1:n.4525T>C
ENST00000675406.1:c.2790T>C	ENSP00000501893.1:p.Asn930=
ENST00000675458.1:c.2883T>C	ENSP00000501754.1:n.2883T>C
ENST00000675507.1:n.4586T>C
ENST00000675535.1:c.*417T>C	ENSP00000501667.1:n.*417T>C
ENST00000675566.1:n.4648T>C
ENST00000675602.1:n.5838T>C
ENST00000675647.1:n.3095T>C
ENST00000675711.1:c.2790T>C	ENSP00000502485.1:p.Asn930=
ENST00000675727.1:c.2790T>C	ENSP00000501722.1:p.Asn930=
ENST00000675748.1:n.4424T>C
ENST00000675765.1:c.*173T>C	ENSP00000502640.1:n.*173T>C
ENST00000675825.1:c.2790T>C	ENSP00000502632.1:p.Asn930=
ENST00000675877.1:n.3095T>C
ENST00000675893.1:c.*3859T>C	ENSP00000502001.1:n.*3859T>C
ENST00000675943.1:n.6405T>C
ENST00000675979.1:c.*2033T>C	ENSP00000502208.1:n.*2033T>C
ENST00000676044.1:c.*450T>C	ENSP00000502378.1:n.*450T>C
ENST00000676086.1:n.4575T>C
ENST00000676121.1:n.4618T>C
ENST00000676237.1:c.2691T>C	ENSP00000501828.1:p.Asn897=
ENST00000676416.1:c.2448T>C	ENSP00000501660.1:p.Asn816=
ENST00000676424.1:n.4586T>C
ENST00000676429.1:n.7259T>C
ENST00000374647.9:c.2790T>C	ENSP00000363779.5:p.Asn930=
ENST00000537196.1:c.1743T>C	ENSP00000439367.1:p.Asn581=
NM_003640.3:c.2790T>C , LRG_251t1:c.2790T>C	NP_003631.2:p.Asn930=
XM_005252285.2:c.2448T>C	XP_005252342.1:p.Asn816=
XM_011519136.1:c.2790T>C	XP_011517438.1:p.Asn930=
XM_011519137.1:c.2448T>C	XP_011517439.1:p.Asn816=
XR_929859.1:n.3168T>C
NM_001318360.1:c.2448T>C	NP_001305289.1:p.Asn816=
NM_001330749.1:c.1743T>C	NP_001317678.1:p.Asn581=
NM_003640.4:c.2790T>C	NP_003631.2:p.Asn930=
XM_011519136.2:c.2790T>C	XP_011517438.1:p.Asn930=
XR_929859.3:n.3179T>C
NM_003640.5:c.2790T>C MANE Select	NP_003631.2:p.Asn930=
NM_001318360.2:c.2448T>C	NP_001305289.1:p.Asn816=
NM_001330749.2:c.1743T>C	NP_001317678.1:p.Asn581=