Canonical Allele Identifier: CA5174266

Gene: ELP1

Linked Data

• dbSNP Id: rs754986873
• ExAC: 9:111641734 C / A
• gnomAD v2: 9-111641734-C-A
• gnomAD v4: 9-108879454-C-A
• MyVariant Identifiers: chr9:g.111641734C>A (hg19) ; chr9:g.108879454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879454C>A , CM000671.2:g.108879454C>A	GRCh38
NC_000009.11:g.111641734C>A , CM000671.1:g.111641734C>A	GRCh37
NC_000009.10:g.110681555C>A	NCBI36
NG_008788.1:g.59875G>T , LRG_251:g.59875G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3564G>T MANE Select	ENSP00000363779.5:p.Arg1188Ser
ENST00000495759.6:c.*2174G>T	ENSP00000433514.2:n.*2174G>T
ENST00000674535.1:c.3564G>T	ENSP00000502142.1:p.Arg1188Ser
ENST00000674704.1:n.6649G>T
ENST00000674740.1:n.447G>T
ENST00000674836.1:n.4177G>T
ENST00000674890.1:c.*799G>T	ENSP00000501870.1:n.*799G>T
ENST00000674938.1:c.3222G>T	ENSP00000502427.1:p.Arg1074Ser
ENST00000674948.1:c.3222G>T	ENSP00000501602.1:p.Arg1074Ser
ENST00000675052.1:c.3564G>T	ENSP00000502664.1:p.Arg1188Ser
ENST00000675062.1:n.610G>T
ENST00000675078.1:c.3564G>T	ENSP00000501549.1:p.Arg1188Ser
ENST00000675215.1:c.*2788G>T	ENSP00000502558.1:n.*2788G>T
ENST00000675233.1:n.5391G>T
ENST00000675321.1:c.3460+598G>T	ENSP00000502751.1:n.3460+598G>T
ENST00000675325.1:n.5521G>T
ENST00000675335.1:c.3595G>T	ENSP00000502182.1:n.3595G>T
ENST00000675400.1:n.5416G>T
ENST00000675406.1:c.3564G>T	ENSP00000501893.1:p.Arg1188Ser
ENST00000675458.1:c.3657G>T	ENSP00000501754.1:n.3657G>T
ENST00000675507.1:n.5360G>T
ENST00000675535.1:c.*1191G>T	ENSP00000501667.1:n.*1191G>T
ENST00000675566.1:n.5422G>T
ENST00000675580.1:n.717G>T
ENST00000675602.1:n.6612G>T
ENST00000675647.1:n.4728G>T
ENST00000675711.1:c.3681G>T	ENSP00000502485.1:n.3681G>T
ENST00000675727.1:c.3564G>T	ENSP00000501722.1:p.Arg1188Ser
ENST00000675748.1:n.5198G>T
ENST00000675765.1:c.*947G>T	ENSP00000502640.1:n.*947G>T
ENST00000675825.1:c.3606G>T	ENSP00000502632.1:p.Arg1202Ser
ENST00000675877.1:n.5408G>T
ENST00000675893.1:c.*4633G>T	ENSP00000502001.1:n.*4633G>T
ENST00000675943.1:n.7179G>T
ENST00000675979.1:c.*2807G>T	ENSP00000502208.1:n.*2807G>T
ENST00000676044.1:c.*1224G>T	ENSP00000502378.1:n.*1224G>T
ENST00000676086.1:n.5349G>T
ENST00000676121.1:n.5392G>T
ENST00000676162.1:n.293G>T
ENST00000676237.1:c.3507G>T	ENSP00000501828.1:p.Arg1169Ser
ENST00000676416.1:c.3264G>T	ENSP00000501660.1:p.Arg1088Ser
ENST00000676424.1:n.5402G>T
ENST00000676429.1:n.8033G>T
ENST00000374647.9:c.3564G>T	ENSP00000363779.5:p.Arg1188Ser
ENST00000495759.5:c.704G>T
ENST00000537196.1:c.2517G>T	ENSP00000439367.1:p.Arg839Ser
NM_003640.3:c.3564G>T , LRG_251t1:c.3564G>T	NP_003631.2:p.Arg1188Ser
XM_005252285.2:c.3222G>T	XP_005252342.1:p.Arg1074Ser
XM_011519136.1:c.3606G>T	XP_011517438.1:p.Arg1202Ser
XM_011519137.1:c.3264G>T	XP_011517439.1:p.Arg1088Ser
NM_001318360.1:c.3222G>T	NP_001305289.1:p.Arg1074Ser
NM_001330749.1:c.2517G>T	NP_001317678.1:p.Arg839Ser
NM_003640.4:c.3564G>T	NP_003631.2:p.Arg1188Ser
XM_011519136.2:c.3606G>T	XP_011517438.1:p.Arg1202Ser
XR_929859.3:n.3953G>T
NM_003640.5:c.3564G>T MANE Select	NP_003631.2:p.Arg1188Ser
NM_001318360.2:c.3222G>T	NP_001305289.1:p.Arg1074Ser
NM_001330749.2:c.2517G>T	NP_001317678.1:p.Arg839Ser