Canonical Allele Identifier: CA374418724

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111656227T>A (hg19) ; chr9:g.108893947T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893947T>A , CM000671.2:g.108893947T>A	GRCh38
NC_000009.11:g.111656227T>A , CM000671.1:g.111656227T>A	GRCh37
NC_000009.10:g.110696048T>A	NCBI36
NG_008788.1:g.45382A>T , LRG_251:g.45382A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2856A>T MANE Select	ENSP00000363779.5:p.Lys952Asn
ENST00000495759.6:c.*1466A>T	ENSP00000433514.2:n.*1466A>T
ENST00000674535.1:c.2856A>T	ENSP00000502142.1:p.Lys952Asn
ENST00000674704.1:n.5941A>T
ENST00000674836.1:n.3469A>T
ENST00000674890.1:c.*91A>T	ENSP00000501870.1:n.*91A>T
ENST00000674938.1:c.2514A>T	ENSP00000502427.1:p.Lys838Asn
ENST00000674948.1:c.2514A>T	ENSP00000501602.1:p.Lys838Asn
ENST00000675052.1:c.2856A>T	ENSP00000502664.1:p.Lys952Asn
ENST00000675078.1:c.2856A>T	ENSP00000501549.1:p.Lys952Asn
ENST00000675215.1:c.*2080A>T	ENSP00000502558.1:n.*2080A>T
ENST00000675233.1:n.4683A>T
ENST00000675321.1:c.2856A>T	ENSP00000502751.1:p.Lys952Asn
ENST00000675325.1:n.4813A>T
ENST00000675335.1:c.2887A>T	ENSP00000502182.1:n.2887A>T
ENST00000675400.1:n.4591A>T
ENST00000675406.1:c.2856A>T	ENSP00000501893.1:p.Lys952Asn
ENST00000675458.1:c.2949A>T	ENSP00000501754.1:n.2949A>T
ENST00000675507.1:n.4652A>T
ENST00000675535.1:c.*483A>T	ENSP00000501667.1:n.*483A>T
ENST00000675566.1:n.4714A>T
ENST00000675602.1:n.5904A>T
ENST00000675647.1:n.3161A>T
ENST00000675711.1:c.2856A>T	ENSP00000502485.1:p.Lys952Asn
ENST00000675727.1:c.2856A>T	ENSP00000501722.1:p.Lys952Asn
ENST00000675748.1:n.4490A>T
ENST00000675765.1:c.*239A>T	ENSP00000502640.1:n.*239A>T
ENST00000675825.1:c.2856A>T	ENSP00000502632.1:p.Lys952Asn
ENST00000675877.1:n.3161A>T
ENST00000675893.1:c.*3925A>T	ENSP00000502001.1:n.*3925A>T
ENST00000675943.1:n.6471A>T
ENST00000675979.1:c.*2099A>T	ENSP00000502208.1:n.*2099A>T
ENST00000676044.1:c.*516A>T	ENSP00000502378.1:n.*516A>T
ENST00000676086.1:n.4641A>T
ENST00000676121.1:n.4684A>T
ENST00000676237.1:c.2757A>T	ENSP00000501828.1:p.Lys919Asn
ENST00000676416.1:c.2514A>T	ENSP00000501660.1:p.Lys838Asn
ENST00000676424.1:n.4652A>T
ENST00000676429.1:n.7325A>T
ENST00000374647.9:c.2856A>T	ENSP00000363779.5:p.Lys952Asn
ENST00000537196.1:c.1809A>T	ENSP00000439367.1:p.Lys603Asn
NM_003640.3:c.2856A>T , LRG_251t1:c.2856A>T	NP_003631.2:p.Lys952Asn
XM_005252285.2:c.2514A>T	XP_005252342.1:p.Lys838Asn
XM_011519136.1:c.2856A>T	XP_011517438.1:p.Lys952Asn
XM_011519137.1:c.2514A>T	XP_011517439.1:p.Lys838Asn
XR_929859.1:n.3234A>T
NM_001318360.1:c.2514A>T	NP_001305289.1:p.Lys838Asn
NM_001330749.1:c.1809A>T	NP_001317678.1:p.Lys603Asn
NM_003640.4:c.2856A>T	NP_003631.2:p.Lys952Asn
XM_011519136.2:c.2856A>T	XP_011517438.1:p.Lys952Asn
XR_929859.3:n.3245A>T
NM_003640.5:c.2856A>T MANE Select	NP_003631.2:p.Lys952Asn
NM_001318360.2:c.2514A>T	NP_001305289.1:p.Lys838Asn
NM_001330749.2:c.1809A>T	NP_001317678.1:p.Lys603Asn