Canonical Allele Identifier: CA374411630

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641746A>T (hg19) ; chr9:g.108879466A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879466A>T , CM000671.2:g.108879466A>T	GRCh38
NC_000009.11:g.111641746A>T , CM000671.1:g.111641746A>T	GRCh37
NC_000009.10:g.110681567A>T	NCBI36
NG_008788.1:g.59863T>A , LRG_251:g.59863T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3552T>A MANE Select	ENSP00000363779.5:p.His1184Gln
ENST00000495759.6:c.*2162T>A	ENSP00000433514.2:n.*2162T>A
ENST00000674535.1:c.3552T>A	ENSP00000502142.1:p.His1184Gln
ENST00000674704.1:n.6637T>A
ENST00000674740.1:n.435T>A
ENST00000674836.1:n.4165T>A
ENST00000674890.1:c.*787T>A	ENSP00000501870.1:n.*787T>A
ENST00000674938.1:c.3210T>A	ENSP00000502427.1:p.His1070Gln
ENST00000674948.1:c.3210T>A	ENSP00000501602.1:p.His1070Gln
ENST00000675052.1:c.3552T>A	ENSP00000502664.1:p.His1184Gln
ENST00000675062.1:n.598T>A
ENST00000675078.1:c.3552T>A	ENSP00000501549.1:p.His1184Gln
ENST00000675215.1:c.*2776T>A	ENSP00000502558.1:n.*2776T>A
ENST00000675233.1:n.5379T>A
ENST00000675321.1:c.3460+586T>A	ENSP00000502751.1:n.3460+586T>A
ENST00000675325.1:n.5509T>A
ENST00000675335.1:c.3583T>A	ENSP00000502182.1:n.3583T>A
ENST00000675400.1:n.5404T>A
ENST00000675406.1:c.3552T>A	ENSP00000501893.1:p.His1184Gln
ENST00000675458.1:c.3645T>A	ENSP00000501754.1:n.3645T>A
ENST00000675507.1:n.5348T>A
ENST00000675535.1:c.*1179T>A	ENSP00000501667.1:n.*1179T>A
ENST00000675566.1:n.5410T>A
ENST00000675580.1:n.705T>A
ENST00000675602.1:n.6600T>A
ENST00000675647.1:n.4716T>A
ENST00000675711.1:c.3669T>A	ENSP00000502485.1:n.3669T>A
ENST00000675727.1:c.3552T>A	ENSP00000501722.1:p.His1184Gln
ENST00000675748.1:n.5186T>A
ENST00000675765.1:c.*935T>A	ENSP00000502640.1:n.*935T>A
ENST00000675825.1:c.3594T>A	ENSP00000502632.1:p.His1198Gln
ENST00000675877.1:n.5396T>A
ENST00000675893.1:c.*4621T>A	ENSP00000502001.1:n.*4621T>A
ENST00000675943.1:n.7167T>A
ENST00000675979.1:c.*2795T>A	ENSP00000502208.1:n.*2795T>A
ENST00000676044.1:c.*1212T>A	ENSP00000502378.1:n.*1212T>A
ENST00000676086.1:n.5337T>A
ENST00000676121.1:n.5380T>A
ENST00000676162.1:n.281T>A
ENST00000676237.1:c.3495T>A	ENSP00000501828.1:p.His1165Gln
ENST00000676416.1:c.3252T>A	ENSP00000501660.1:p.His1084Gln
ENST00000676424.1:n.5390T>A
ENST00000676429.1:n.8021T>A
ENST00000374647.9:c.3552T>A	ENSP00000363779.5:p.His1184Gln
ENST00000467959.1:n.432T>A
ENST00000495759.5:c.692T>A
ENST00000537196.1:c.2505T>A	ENSP00000439367.1:p.His835Gln
NM_003640.3:c.3552T>A , LRG_251t1:c.3552T>A	NP_003631.2:p.His1184Gln
XM_005252285.2:c.3210T>A	XP_005252342.1:p.His1070Gln
XM_011519136.1:c.3594T>A	XP_011517438.1:p.His1198Gln
XM_011519137.1:c.3252T>A	XP_011517439.1:p.His1084Gln
NM_001318360.1:c.3210T>A	NP_001305289.1:p.His1070Gln
NM_001330749.1:c.2505T>A	NP_001317678.1:p.His835Gln
NM_003640.4:c.3552T>A	NP_003631.2:p.His1184Gln
XM_011519136.2:c.3594T>A	XP_011517438.1:p.His1198Gln
XR_929859.3:n.3941T>A
NM_003640.5:c.3552T>A MANE Select	NP_003631.2:p.His1184Gln
NM_001318360.2:c.3210T>A	NP_001305289.1:p.His1070Gln
NM_001330749.2:c.2505T>A	NP_001317678.1:p.His835Gln