Canonical Allele Identifier: CA374412009

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641836A>C (hg19) ; chr9:g.108879556A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879556A>C , CM000671.2:g.108879556A>C	GRCh38
NC_000009.11:g.111641836A>C , CM000671.1:g.111641836A>C	GRCh37
NC_000009.10:g.110681657A>C	NCBI36
NG_008788.1:g.59773T>G , LRG_251:g.59773T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3462T>G MANE Select	ENSP00000363779.5:p.Asp1154Glu
ENST00000495759.6:c.*2072T>G	ENSP00000433514.2:n.*2072T>G
ENST00000674535.1:c.3462T>G	ENSP00000502142.1:p.Asp1154Glu
ENST00000674704.1:n.6547T>G
ENST00000674740.1:n.345T>G
ENST00000674836.1:n.4075T>G
ENST00000674890.1:c.*697T>G	ENSP00000501870.1:n.*697T>G
ENST00000674938.1:c.3120T>G	ENSP00000502427.1:p.Asp1040Glu
ENST00000674948.1:c.3120T>G	ENSP00000501602.1:p.Asp1040Glu
ENST00000675052.1:c.3462T>G	ENSP00000502664.1:p.Asp1154Glu
ENST00000675062.1:n.508T>G
ENST00000675078.1:c.3462T>G	ENSP00000501549.1:p.Asp1154Glu
ENST00000675215.1:c.*2686T>G	ENSP00000502558.1:n.*2686T>G
ENST00000675233.1:n.5289T>G
ENST00000675321.1:c.3460+496T>G	ENSP00000502751.1:n.3460+496T>G
ENST00000675325.1:n.5419T>G
ENST00000675335.1:c.3493T>G	ENSP00000502182.1:n.3493T>G
ENST00000675400.1:n.5314T>G
ENST00000675406.1:c.3462T>G	ENSP00000501893.1:p.Asp1154Glu
ENST00000675458.1:c.3555T>G	ENSP00000501754.1:n.3555T>G
ENST00000675507.1:n.5258T>G
ENST00000675535.1:c.*1089T>G	ENSP00000501667.1:n.*1089T>G
ENST00000675566.1:n.5320T>G
ENST00000675580.1:n.615T>G
ENST00000675602.1:n.6510T>G
ENST00000675647.1:n.4626T>G
ENST00000675711.1:c.3579T>G	ENSP00000502485.1:n.3579T>G
ENST00000675727.1:c.3462T>G	ENSP00000501722.1:p.Asp1154Glu
ENST00000675748.1:n.5096T>G
ENST00000675765.1:c.*845T>G	ENSP00000502640.1:n.*845T>G
ENST00000675825.1:c.3504T>G	ENSP00000502632.1:p.Asp1168Glu
ENST00000675877.1:n.5306T>G
ENST00000675893.1:c.*4531T>G	ENSP00000502001.1:n.*4531T>G
ENST00000675943.1:n.7077T>G
ENST00000675979.1:c.*2705T>G	ENSP00000502208.1:n.*2705T>G
ENST00000676044.1:c.*1122T>G	ENSP00000502378.1:n.*1122T>G
ENST00000676086.1:n.5247T>G
ENST00000676121.1:n.5290T>G
ENST00000676162.1:n.191T>G
ENST00000676237.1:c.3405T>G	ENSP00000501828.1:p.Asp1135Glu
ENST00000676416.1:c.3162T>G	ENSP00000501660.1:p.Asp1054Glu
ENST00000676424.1:n.5300T>G
ENST00000676429.1:n.7931T>G
ENST00000374647.9:c.3462T>G	ENSP00000363779.5:p.Asp1154Glu
ENST00000467959.1:n.342T>G
ENST00000495759.5:c.602T>G
ENST00000537196.1:c.2415T>G	ENSP00000439367.1:p.Asp805Glu
NM_003640.3:c.3462T>G , LRG_251t1:c.3462T>G	NP_003631.2:p.Asp1154Glu
XM_005252285.2:c.3120T>G	XP_005252342.1:p.Asp1040Glu
XM_011519136.1:c.3504T>G	XP_011517438.1:p.Asp1168Glu
XM_011519137.1:c.3162T>G	XP_011517439.1:p.Asp1054Glu
NM_001318360.1:c.3120T>G	NP_001305289.1:p.Asp1040Glu
NM_001330749.1:c.2415T>G	NP_001317678.1:p.Asp805Glu
NM_003640.4:c.3462T>G	NP_003631.2:p.Asp1154Glu
XM_011519136.2:c.3504T>G	XP_011517438.1:p.Asp1168Glu
XR_929859.3:n.3851T>G
NM_003640.5:c.3462T>G MANE Select	NP_003631.2:p.Asp1154Glu
NM_001318360.2:c.3120T>G	NP_001305289.1:p.Asp1040Glu
NM_001330749.2:c.2415T>G	NP_001317678.1:p.Asp805Glu