Canonical Allele Identifier: CA374414961

Gene: ELP1

Linked Data

• dbSNP Id: rs1828239257
• MyVariant Identifiers: chr9:g.111651653T>C (hg19) ; chr9:g.108889373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889373T>C , CM000671.2:g.108889373T>C	GRCh38
NC_000009.11:g.111651653T>C , CM000671.1:g.111651653T>C	GRCh37
NC_000009.10:g.110691474T>C	NCBI36
NG_008788.1:g.49956A>G , LRG_251:g.49956A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3181A>G MANE Select	ENSP00000363779.5:p.Lys1061Glu
ENST00000495759.6:c.*1791A>G	ENSP00000433514.2:n.*1791A>G
ENST00000674535.1:c.3181A>G	ENSP00000502142.1:p.Lys1061Glu
ENST00000674704.1:n.6266A>G
ENST00000674836.1:n.3794A>G
ENST00000674890.1:c.*416A>G	ENSP00000501870.1:n.*416A>G
ENST00000674938.1:c.2839A>G	ENSP00000502427.1:p.Lys947Glu
ENST00000674948.1:c.2839A>G	ENSP00000501602.1:p.Lys947Glu
ENST00000675052.1:c.3181A>G	ENSP00000502664.1:p.Lys1061Glu
ENST00000675078.1:c.3181A>G	ENSP00000501549.1:p.Lys1061Glu
ENST00000675215.1:c.*2405A>G	ENSP00000502558.1:n.*2405A>G
ENST00000675233.1:n.5008A>G
ENST00000675321.1:c.3181A>G	ENSP00000502751.1:p.Lys1061Glu
ENST00000675325.1:n.5138A>G
ENST00000675335.1:c.3212A>G	ENSP00000502182.1:n.3212A>G
ENST00000675400.1:n.4916A>G
ENST00000675406.1:c.3181A>G	ENSP00000501893.1:p.Lys1061Glu
ENST00000675458.1:c.3274A>G	ENSP00000501754.1:n.3274A>G
ENST00000675507.1:n.4977A>G
ENST00000675535.1:c.*808A>G	ENSP00000501667.1:n.*808A>G
ENST00000675566.1:n.5039A>G
ENST00000675602.1:n.6229A>G
ENST00000675647.1:n.4345A>G
ENST00000675711.1:c.3181A>G	ENSP00000502485.1:p.Lys1061Glu
ENST00000675727.1:c.3181A>G	ENSP00000501722.1:p.Lys1061Glu
ENST00000675748.1:n.4815A>G
ENST00000675765.1:c.*564A>G	ENSP00000502640.1:n.*564A>G
ENST00000675825.1:c.3181A>G	ENSP00000502632.1:p.Lys1061Glu
ENST00000675877.1:n.3486A>G
ENST00000675893.1:c.*4250A>G	ENSP00000502001.1:n.*4250A>G
ENST00000675943.1:n.6796A>G
ENST00000675979.1:c.*2424A>G	ENSP00000502208.1:n.*2424A>G
ENST00000676044.1:c.*841A>G	ENSP00000502378.1:n.*841A>G
ENST00000676086.1:n.4966A>G
ENST00000676121.1:n.5009A>G
ENST00000676237.1:c.3082A>G	ENSP00000501828.1:p.Lys1028Glu
ENST00000676416.1:c.2839A>G	ENSP00000501660.1:p.Lys947Glu
ENST00000676424.1:n.4977A>G
ENST00000676429.1:n.7650A>G
ENST00000374647.9:c.3181A>G	ENSP00000363779.5:p.Lys1061Glu
ENST00000467959.1:n.61A>G
ENST00000495759.5:c.321A>G
ENST00000537196.1:c.2134A>G	ENSP00000439367.1:p.Lys712Glu
NM_003640.3:c.3181A>G , LRG_251t1:c.3181A>G	NP_003631.2:p.Lys1061Glu
XM_005252285.2:c.2839A>G	XP_005252342.1:p.Lys947Glu
XM_011519136.1:c.3181A>G	XP_011517438.1:p.Lys1061Glu
XM_011519137.1:c.2839A>G	XP_011517439.1:p.Lys947Glu
NM_001318360.1:c.2839A>G	NP_001305289.1:p.Lys947Glu
NM_001330749.1:c.2134A>G	NP_001317678.1:p.Lys712Glu
NM_003640.4:c.3181A>G	NP_003631.2:p.Lys1061Glu
XM_011519136.2:c.3181A>G	XP_011517438.1:p.Lys1061Glu
XR_929859.3:n.3570A>G
NM_003640.5:c.3181A>G MANE Select	NP_003631.2:p.Lys1061Glu
NM_001318360.2:c.2839A>G	NP_001305289.1:p.Lys947Glu
NM_001330749.2:c.2134A>G	NP_001317678.1:p.Lys712Glu