Canonical Allele Identifier: CA374429567

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108912426T>A , CM000671.2:g.108912426T>A	GRCh38
NC_000009.11:g.111674706T>A , CM000671.1:g.111674706T>A	GRCh37
NC_000009.10:g.110714527T>A	NCBI36
NG_008788.1:g.26903A>T , LRG_251:g.26903A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.1027A>T MANE Select	NP_003631.2:p.Lys343Ter
ENST00000374647.10:c.1027A>T MANE Select	ENSP00000363779.5:p.Lys343Ter
NM_001318360.1:c.685A>T	NP_001305289.1:p.Lys229Ter
NM_001318360.2:c.685A>T	NP_001305289.1:p.Lys229Ter
NM_001330749.1:c.-21A>T	NP_001317678.1:n.-21A>T
NM_001330749.2:c.-21A>T	NP_001317678.1:n.-21A>T
NM_003640.3:c.1027A>T , LRG_251t1:c.1027A>T	NP_003631.2:p.Lys343Ter
NM_003640.4:c.1027A>T	NP_003631.2:p.Lys343Ter
ENST00000374647.9:c.1027A>T	ENSP00000363779.5:p.Lys343Ter
ENST00000495759.6:c.553-4022A>T	ENSP00000433514.2:n.553-4022A>T
ENST00000537196.1:c.-21A>T	ENSP00000439367.1:n.-21A>T
ENST00000674535.1:c.1027A>T	ENSP00000502142.1:p.Lys343Ter
ENST00000674704.1:n.2834A>T
ENST00000674836.1:n.1332A>T
ENST00000674890.1:c.1027A>T	ENSP00000501870.1:p.Lys343Ter
ENST00000674938.1:c.685A>T	ENSP00000502427.1:p.Lys229Ter
ENST00000674948.1:c.685A>T	ENSP00000501602.1:p.Lys229Ter
ENST00000675052.1:c.1027A>T	ENSP00000502664.1:p.Lys343Ter
ENST00000675078.1:c.1027A>T	ENSP00000501549.1:p.Lys343Ter
ENST00000675215.1:c.*251A>T	ENSP00000502558.1:n.*251A>T
ENST00000675233.1:n.2823A>T
ENST00000675321.1:c.1027A>T	ENSP00000502751.1:p.Lys343Ter
ENST00000675325.1:n.2823A>T
ENST00000675335.1:c.1027A>T	ENSP00000502182.1:p.Lys343Ter
ENST00000675400.1:n.2700A>T
ENST00000675406.1:c.1027A>T	ENSP00000501893.1:p.Lys343Ter
ENST00000675458.1:c.1120A>T	ENSP00000501754.1:n.1120A>T
ENST00000675507.1:n.2823A>T
ENST00000675535.1:c.1027A>T	ENSP00000501667.1:p.Lys343Ter
ENST00000675566.1:n.2823A>T
ENST00000675602.1:n.4075A>T
ENST00000675647.1:n.1332A>T
ENST00000675711.1:c.1027A>T	ENSP00000502485.1:p.Lys343Ter
ENST00000675727.1:c.1027A>T	ENSP00000501722.1:p.Lys343Ter
ENST00000675748.1:n.2661A>T
ENST00000675765.1:c.1027A>T	ENSP00000502640.1:p.Lys343Ter
ENST00000675825.1:c.1027A>T	ENSP00000502632.1:p.Lys343Ter
ENST00000675877.1:n.1332A>T
ENST00000675893.1:c.*2096A>T	ENSP00000502001.1:n.*2096A>T
ENST00000675943.1:n.2823A>T
ENST00000675979.1:c.*270A>T	ENSP00000502208.1:n.*270A>T
ENST00000676044.1:c.1027A>T	ENSP00000502378.1:p.Lys343Ter
ENST00000676086.1:n.2823A>T
ENST00000676121.1:n.2855A>T
ENST00000676237.1:c.928A>T	ENSP00000501828.1:p.Lys310Ter
ENST00000676416.1:c.685A>T	ENSP00000501660.1:p.Lys229Ter
ENST00000676424.1:n.2823A>T
ENST00000676429.1:n.5496A>T
XM_005252285.2:c.685A>T	XP_005252342.1:p.Lys229Ter
XM_011519136.1:c.1027A>T	XP_011517438.1:p.Lys343Ter
XM_011519136.2:c.1027A>T	XP_011517438.1:p.Lys343Ter
XM_011519137.1:c.685A>T	XP_011517439.1:p.Lys229Ter
XR_929859.1:n.1343A>T
XR_929859.3:n.1354A>T