Canonical Allele Identifier: CA2691113278

Gene: ELP1

Linked Data

• gnomAD v4: 9-108894080-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108894080T>A , CM000671.2:g.108894080T>A	GRCh38
NC_000009.11:g.111656360T>A , CM000671.1:g.111656360T>A	GRCh37
NC_000009.10:g.110696181T>A	NCBI36
NG_008788.1:g.45249A>T , LRG_251:g.45249A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2737-14A>T MANE Select	ENSP00000363779.5:n.2737-14A>T
ENST00000495759.6:c.*1347-14A>T	ENSP00000433514.2:n.*1347-14A>T
ENST00000674535.1:c.2737-14A>T	ENSP00000502142.1:n.2737-14A>T
ENST00000674704.1:n.5822-14A>T
ENST00000674836.1:n.3350-14A>T
ENST00000674890.1:c.2745A>T	ENSP00000501870.1:p.Leu915Phe
ENST00000674938.1:c.2395-14A>T	ENSP00000502427.1:n.2395-14A>T
ENST00000674948.1:c.2395-14A>T	ENSP00000501602.1:n.2395-14A>T
ENST00000675052.1:c.2737-14A>T	ENSP00000502664.1:n.2737-14A>T
ENST00000675078.1:c.2737-14A>T	ENSP00000501549.1:n.2737-14A>T
ENST00000675215.1:c.*1961-14A>T	ENSP00000502558.1:n.*1961-14A>T
ENST00000675233.1:n.4564-14A>T
ENST00000675321.1:c.2737-14A>T	ENSP00000502751.1:n.2737-14A>T
ENST00000675325.1:n.4694-14A>T
ENST00000675335.1:c.2768-14A>T	ENSP00000502182.1:n.2768-14A>T
ENST00000675400.1:n.4472-14A>T
ENST00000675406.1:c.2737-14A>T	ENSP00000501893.1:n.2737-14A>T
ENST00000675458.1:c.2830-14A>T	ENSP00000501754.1:n.2830-14A>T
ENST00000675507.1:n.4533-14A>T
ENST00000675535.1:c.*364-14A>T	ENSP00000501667.1:n.*364-14A>T
ENST00000675566.1:n.4595-14A>T
ENST00000675602.1:n.5785-14A>T
ENST00000675647.1:n.3042-14A>T
ENST00000675711.1:c.2737-14A>T	ENSP00000502485.1:n.2737-14A>T
ENST00000675727.1:c.2737-14A>T	ENSP00000501722.1:n.2737-14A>T
ENST00000675748.1:n.4371-14A>T
ENST00000675765.1:c.*120-14A>T	ENSP00000502640.1:n.*120-14A>T
ENST00000675825.1:c.2737-14A>T	ENSP00000502632.1:n.2737-14A>T
ENST00000675877.1:n.3042-14A>T
ENST00000675893.1:c.*3806-14A>T	ENSP00000502001.1:n.*3806-14A>T
ENST00000675943.1:n.6352-14A>T
ENST00000675979.1:c.*1980-14A>T	ENSP00000502208.1:n.*1980-14A>T
ENST00000676044.1:c.*397-14A>T	ENSP00000502378.1:n.*397-14A>T
ENST00000676086.1:n.4522-14A>T
ENST00000676121.1:n.4565-14A>T
ENST00000676237.1:c.2638-14A>T	ENSP00000501828.1:n.2638-14A>T
ENST00000676416.1:c.2395-14A>T	ENSP00000501660.1:n.2395-14A>T
ENST00000676424.1:n.4533-14A>T
ENST00000676429.1:n.7206-14A>T
ENST00000374647.9:c.2737-14A>T	ENSP00000363779.5:n.2737-14A>T
ENST00000537196.1:c.1690-14A>T	ENSP00000439367.1:n.1690-14A>T
NM_003640.3:c.2737-14A>T , LRG_251t1:c.2737-14A>T	NP_003631.2:n.2737-14A>T
XM_005252285.2:c.2395-14A>T	XP_005252342.1:n.2395-14A>T
XM_011519136.1:c.2737-14A>T	XP_011517438.1:n.2737-14A>T
XM_011519137.1:c.2395-14A>T	XP_011517439.1:n.2395-14A>T
XR_929859.1:n.3115-14A>T
NM_001318360.1:c.2395-14A>T	NP_001305289.1:n.2395-14A>T
NM_001330749.1:c.1690-14A>T	NP_001317678.1:n.1690-14A>T
NM_003640.4:c.2737-14A>T	NP_003631.2:n.2737-14A>T
XM_011519136.2:c.2737-14A>T	XP_011517438.1:n.2737-14A>T
XR_929859.3:n.3126-14A>T
NM_003640.5:c.2737-14A>T MANE Select	NP_003631.2:n.2737-14A>T
NM_001318360.2:c.2395-14A>T	NP_001305289.1:n.2395-14A>T
NM_001330749.2:c.1690-14A>T	NP_001317678.1:n.1690-14A>T