Canonical Allele Identifier: CA2499219541

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1152640
• ClinVar RCV Id: RCV001494044
• dbSNP Id: rs2131975523

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108894076T>G , CM000671.2:g.108894076T>G	GRCh38
NC_000009.11:g.111656356T>G , CM000671.1:g.111656356T>G	GRCh37
NC_000009.10:g.110696177T>G	NCBI36
NG_008788.1:g.45253A>C , LRG_251:g.45253A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2737-10A>C MANE Select	ENSP00000363779.5:n.2737-10A>C
ENST00000495759.6:c.*1347-10A>C	ENSP00000433514.2:n.*1347-10A>C
ENST00000674535.1:c.2737-10A>C	ENSP00000502142.1:n.2737-10A>C
ENST00000674704.1:n.5822-10A>C
ENST00000674836.1:n.3350-10A>C
ENST00000674890.1:c.2749A>C	ENSP00000501870.1:p.Ile917Leu
ENST00000674938.1:c.2395-10A>C	ENSP00000502427.1:n.2395-10A>C
ENST00000674948.1:c.2395-10A>C	ENSP00000501602.1:n.2395-10A>C
ENST00000675052.1:c.2737-10A>C	ENSP00000502664.1:n.2737-10A>C
ENST00000675078.1:c.2737-10A>C	ENSP00000501549.1:n.2737-10A>C
ENST00000675215.1:c.*1961-10A>C	ENSP00000502558.1:n.*1961-10A>C
ENST00000675233.1:n.4564-10A>C
ENST00000675321.1:c.2737-10A>C	ENSP00000502751.1:n.2737-10A>C
ENST00000675325.1:n.4694-10A>C
ENST00000675335.1:c.2768-10A>C	ENSP00000502182.1:n.2768-10A>C
ENST00000675400.1:n.4472-10A>C
ENST00000675406.1:c.2737-10A>C	ENSP00000501893.1:n.2737-10A>C
ENST00000675458.1:c.2830-10A>C	ENSP00000501754.1:n.2830-10A>C
ENST00000675507.1:n.4533-10A>C
ENST00000675535.1:c.*364-10A>C	ENSP00000501667.1:n.*364-10A>C
ENST00000675566.1:n.4595-10A>C
ENST00000675602.1:n.5785-10A>C
ENST00000675647.1:n.3042-10A>C
ENST00000675711.1:c.2737-10A>C	ENSP00000502485.1:n.2737-10A>C
ENST00000675727.1:c.2737-10A>C	ENSP00000501722.1:n.2737-10A>C
ENST00000675748.1:n.4371-10A>C
ENST00000675765.1:c.*120-10A>C	ENSP00000502640.1:n.*120-10A>C
ENST00000675825.1:c.2737-10A>C	ENSP00000502632.1:n.2737-10A>C
ENST00000675877.1:n.3042-10A>C
ENST00000675893.1:c.*3806-10A>C	ENSP00000502001.1:n.*3806-10A>C
ENST00000675943.1:n.6352-10A>C
ENST00000675979.1:c.*1980-10A>C	ENSP00000502208.1:n.*1980-10A>C
ENST00000676044.1:c.*397-10A>C	ENSP00000502378.1:n.*397-10A>C
ENST00000676086.1:n.4522-10A>C
ENST00000676121.1:n.4565-10A>C
ENST00000676237.1:c.2638-10A>C	ENSP00000501828.1:n.2638-10A>C
ENST00000676416.1:c.2395-10A>C	ENSP00000501660.1:n.2395-10A>C
ENST00000676424.1:n.4533-10A>C
ENST00000676429.1:n.7206-10A>C
ENST00000374647.9:c.2737-10A>C	ENSP00000363779.5:n.2737-10A>C
ENST00000537196.1:c.1690-10A>C	ENSP00000439367.1:n.1690-10A>C
NM_003640.3:c.2737-10A>C , LRG_251t1:c.2737-10A>C	NP_003631.2:n.2737-10A>C
XM_005252285.2:c.2395-10A>C	XP_005252342.1:n.2395-10A>C
XM_011519136.1:c.2737-10A>C	XP_011517438.1:n.2737-10A>C
XM_011519137.1:c.2395-10A>C	XP_011517439.1:n.2395-10A>C
XR_929859.1:n.3115-10A>C
NM_001318360.1:c.2395-10A>C	NP_001305289.1:n.2395-10A>C
NM_001330749.1:c.1690-10A>C	NP_001317678.1:n.1690-10A>C
NM_003640.4:c.2737-10A>C	NP_003631.2:n.2737-10A>C
XM_011519136.2:c.2737-10A>C	XP_011517438.1:n.2737-10A>C
XR_929859.3:n.3126-10A>C
NM_003640.5:c.2737-10A>C MANE Select	NP_003631.2:n.2737-10A>C
NM_001318360.2:c.2395-10A>C	NP_001305289.1:n.2395-10A>C
NM_001330749.2:c.1690-10A>C	NP_001317678.1:n.1690-10A>C