Canonical Allele Identifier: CA374418868

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111656268A>C (hg19) ; chr9:g.108893988A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893988A>C , CM000671.2:g.108893988A>C	GRCh38
NC_000009.11:g.111656268A>C , CM000671.1:g.111656268A>C	GRCh37
NC_000009.10:g.110696089A>C	NCBI36
NG_008788.1:g.45341T>G , LRG_251:g.45341T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2815T>G MANE Select	ENSP00000363779.5:p.Tyr939Asp
ENST00000495759.6:c.*1425T>G	ENSP00000433514.2:n.*1425T>G
ENST00000674535.1:c.2815T>G	ENSP00000502142.1:p.Tyr939Asp
ENST00000674704.1:n.5900T>G
ENST00000674836.1:n.3428T>G
ENST00000674890.1:c.*50T>G	ENSP00000501870.1:n.*50T>G
ENST00000674938.1:c.2473T>G	ENSP00000502427.1:p.Tyr825Asp
ENST00000674948.1:c.2473T>G	ENSP00000501602.1:p.Tyr825Asp
ENST00000675052.1:c.2815T>G	ENSP00000502664.1:p.Tyr939Asp
ENST00000675078.1:c.2815T>G	ENSP00000501549.1:p.Tyr939Asp
ENST00000675215.1:c.*2039T>G	ENSP00000502558.1:n.*2039T>G
ENST00000675233.1:n.4642T>G
ENST00000675321.1:c.2815T>G	ENSP00000502751.1:p.Tyr939Asp
ENST00000675325.1:n.4772T>G
ENST00000675335.1:c.2846T>G	ENSP00000502182.1:n.2846T>G
ENST00000675400.1:n.4550T>G
ENST00000675406.1:c.2815T>G	ENSP00000501893.1:p.Tyr939Asp
ENST00000675458.1:c.2908T>G	ENSP00000501754.1:n.2908T>G
ENST00000675507.1:n.4611T>G
ENST00000675535.1:c.*442T>G	ENSP00000501667.1:n.*442T>G
ENST00000675566.1:n.4673T>G
ENST00000675602.1:n.5863T>G
ENST00000675647.1:n.3120T>G
ENST00000675711.1:c.2815T>G	ENSP00000502485.1:p.Tyr939Asp
ENST00000675727.1:c.2815T>G	ENSP00000501722.1:p.Tyr939Asp
ENST00000675748.1:n.4449T>G
ENST00000675765.1:c.*198T>G	ENSP00000502640.1:n.*198T>G
ENST00000675825.1:c.2815T>G	ENSP00000502632.1:p.Tyr939Asp
ENST00000675877.1:n.3120T>G
ENST00000675893.1:c.*3884T>G	ENSP00000502001.1:n.*3884T>G
ENST00000675943.1:n.6430T>G
ENST00000675979.1:c.*2058T>G	ENSP00000502208.1:n.*2058T>G
ENST00000676044.1:c.*475T>G	ENSP00000502378.1:n.*475T>G
ENST00000676086.1:n.4600T>G
ENST00000676121.1:n.4643T>G
ENST00000676237.1:c.2716T>G	ENSP00000501828.1:p.Tyr906Asp
ENST00000676416.1:c.2473T>G	ENSP00000501660.1:p.Tyr825Asp
ENST00000676424.1:n.4611T>G
ENST00000676429.1:n.7284T>G
ENST00000374647.9:c.2815T>G	ENSP00000363779.5:p.Tyr939Asp
ENST00000537196.1:c.1768T>G	ENSP00000439367.1:p.Tyr590Asp
NM_003640.3:c.2815T>G , LRG_251t1:c.2815T>G	NP_003631.2:p.Tyr939Asp
XM_005252285.2:c.2473T>G	XP_005252342.1:p.Tyr825Asp
XM_011519136.1:c.2815T>G	XP_011517438.1:p.Tyr939Asp
XM_011519137.1:c.2473T>G	XP_011517439.1:p.Tyr825Asp
XR_929859.1:n.3193T>G
NM_001318360.1:c.2473T>G	NP_001305289.1:p.Tyr825Asp
NM_001330749.1:c.1768T>G	NP_001317678.1:p.Tyr590Asp
NM_003640.4:c.2815T>G	NP_003631.2:p.Tyr939Asp
XM_011519136.2:c.2815T>G	XP_011517438.1:p.Tyr939Asp
XR_929859.3:n.3204T>G
NM_003640.5:c.2815T>G MANE Select	NP_003631.2:p.Tyr939Asp
NM_001318360.2:c.2473T>G	NP_001305289.1:p.Tyr825Asp
NM_001330749.2:c.1768T>G	NP_001317678.1:p.Tyr590Asp