Canonical Allele Identifier: CA374411635

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641747T>G (hg19) ; chr9:g.108879467T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879467T>G , CM000671.2:g.108879467T>G	GRCh38
NC_000009.11:g.111641747T>G , CM000671.1:g.111641747T>G	GRCh37
NC_000009.10:g.110681568T>G	NCBI36
NG_008788.1:g.59862A>C , LRG_251:g.59862A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3551A>C MANE Select	ENSP00000363779.5:p.His1184Pro
ENST00000495759.6:c.*2161A>C	ENSP00000433514.2:n.*2161A>C
ENST00000674535.1:c.3551A>C	ENSP00000502142.1:p.His1184Pro
ENST00000674704.1:n.6636A>C
ENST00000674740.1:n.434A>C
ENST00000674836.1:n.4164A>C
ENST00000674890.1:c.*786A>C	ENSP00000501870.1:n.*786A>C
ENST00000674938.1:c.3209A>C	ENSP00000502427.1:p.His1070Pro
ENST00000674948.1:c.3209A>C	ENSP00000501602.1:p.His1070Pro
ENST00000675052.1:c.3551A>C	ENSP00000502664.1:p.His1184Pro
ENST00000675062.1:n.597A>C
ENST00000675078.1:c.3551A>C	ENSP00000501549.1:p.His1184Pro
ENST00000675215.1:c.*2775A>C	ENSP00000502558.1:n.*2775A>C
ENST00000675233.1:n.5378A>C
ENST00000675321.1:c.3460+585A>C	ENSP00000502751.1:n.3460+585A>C
ENST00000675325.1:n.5508A>C
ENST00000675335.1:c.3582A>C	ENSP00000502182.1:n.3582A>C
ENST00000675400.1:n.5403A>C
ENST00000675406.1:c.3551A>C	ENSP00000501893.1:p.His1184Pro
ENST00000675458.1:c.3644A>C	ENSP00000501754.1:n.3644A>C
ENST00000675507.1:n.5347A>C
ENST00000675535.1:c.*1178A>C	ENSP00000501667.1:n.*1178A>C
ENST00000675566.1:n.5409A>C
ENST00000675580.1:n.704A>C
ENST00000675602.1:n.6599A>C
ENST00000675647.1:n.4715A>C
ENST00000675711.1:c.3668A>C	ENSP00000502485.1:n.3668A>C
ENST00000675727.1:c.3551A>C	ENSP00000501722.1:p.His1184Pro
ENST00000675748.1:n.5185A>C
ENST00000675765.1:c.*934A>C	ENSP00000502640.1:n.*934A>C
ENST00000675825.1:c.3593A>C	ENSP00000502632.1:p.His1198Pro
ENST00000675877.1:n.5395A>C
ENST00000675893.1:c.*4620A>C	ENSP00000502001.1:n.*4620A>C
ENST00000675943.1:n.7166A>C
ENST00000675979.1:c.*2794A>C	ENSP00000502208.1:n.*2794A>C
ENST00000676044.1:c.*1211A>C	ENSP00000502378.1:n.*1211A>C
ENST00000676086.1:n.5336A>C
ENST00000676121.1:n.5379A>C
ENST00000676162.1:n.280A>C
ENST00000676237.1:c.3494A>C	ENSP00000501828.1:p.His1165Pro
ENST00000676416.1:c.3251A>C	ENSP00000501660.1:p.His1084Pro
ENST00000676424.1:n.5389A>C
ENST00000676429.1:n.8020A>C
ENST00000374647.9:c.3551A>C	ENSP00000363779.5:p.His1184Pro
ENST00000467959.1:n.431A>C
ENST00000495759.5:c.691A>C
ENST00000537196.1:c.2504A>C	ENSP00000439367.1:p.His835Pro
NM_003640.3:c.3551A>C , LRG_251t1:c.3551A>C	NP_003631.2:p.His1184Pro
XM_005252285.2:c.3209A>C	XP_005252342.1:p.His1070Pro
XM_011519136.1:c.3593A>C	XP_011517438.1:p.His1198Pro
XM_011519137.1:c.3251A>C	XP_011517439.1:p.His1084Pro
NM_001318360.1:c.3209A>C	NP_001305289.1:p.His1070Pro
NM_001330749.1:c.2504A>C	NP_001317678.1:p.His835Pro
NM_003640.4:c.3551A>C	NP_003631.2:p.His1184Pro
XM_011519136.2:c.3593A>C	XP_011517438.1:p.His1198Pro
XR_929859.3:n.3940A>C
NM_003640.5:c.3551A>C MANE Select	NP_003631.2:p.His1184Pro
NM_001318360.2:c.3209A>C	NP_001305289.1:p.His1070Pro
NM_001330749.2:c.2504A>C	NP_001317678.1:p.His835Pro