Canonical Allele Identifier: CA466673089

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111651645A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889365A>G , CM000671.2:g.108889365A>G	GRCh38
NC_000009.11:g.111651645A>G , CM000671.1:g.111651645A>G	GRCh37
NC_000009.10:g.110691466A>G	NCBI36
NG_008788.1:g.49964T>C , LRG_251:g.49964T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3189T>C MANE Select	ENSP00000363779.5:p.Ile1063=
ENST00000495759.6:c.*1799T>C	ENSP00000433514.2:n.*1799T>C
ENST00000674535.1:c.3189T>C	ENSP00000502142.1:p.Ile1063=
ENST00000674704.1:n.6274T>C
ENST00000674836.1:n.3802T>C
ENST00000674890.1:c.*424T>C	ENSP00000501870.1:n.*424T>C
ENST00000674938.1:c.2847T>C	ENSP00000502427.1:p.Ile949=
ENST00000674948.1:c.2847T>C	ENSP00000501602.1:p.Ile949=
ENST00000675052.1:c.3189T>C	ENSP00000502664.1:p.Ile1063=
ENST00000675078.1:c.3189T>C	ENSP00000501549.1:p.Ile1063=
ENST00000675215.1:c.*2413T>C	ENSP00000502558.1:n.*2413T>C
ENST00000675233.1:n.5016T>C
ENST00000675321.1:c.3189T>C	ENSP00000502751.1:p.Ile1063=
ENST00000675325.1:n.5146T>C
ENST00000675335.1:c.3220T>C	ENSP00000502182.1:n.3220T>C
ENST00000675400.1:n.4924T>C
ENST00000675406.1:c.3189T>C	ENSP00000501893.1:p.Ile1063=
ENST00000675458.1:c.3282T>C	ENSP00000501754.1:n.3282T>C
ENST00000675507.1:n.4985T>C
ENST00000675535.1:c.*816T>C	ENSP00000501667.1:n.*816T>C
ENST00000675566.1:n.5047T>C
ENST00000675602.1:n.6237T>C
ENST00000675647.1:n.4353T>C
ENST00000675711.1:c.3189T>C	ENSP00000502485.1:p.Ile1063=
ENST00000675727.1:c.3189T>C	ENSP00000501722.1:p.Ile1063=
ENST00000675748.1:n.4823T>C
ENST00000675765.1:c.*572T>C	ENSP00000502640.1:n.*572T>C
ENST00000675825.1:c.3189T>C	ENSP00000502632.1:p.Ile1063=
ENST00000675877.1:n.3494T>C
ENST00000675893.1:c.*4258T>C	ENSP00000502001.1:n.*4258T>C
ENST00000675943.1:n.6804T>C
ENST00000675979.1:c.*2432T>C	ENSP00000502208.1:n.*2432T>C
ENST00000676044.1:c.*849T>C	ENSP00000502378.1:n.*849T>C
ENST00000676086.1:n.4974T>C
ENST00000676121.1:n.5017T>C
ENST00000676237.1:c.3090T>C	ENSP00000501828.1:p.Ile1030=
ENST00000676416.1:c.2847T>C	ENSP00000501660.1:p.Ile949=
ENST00000676424.1:n.4985T>C
ENST00000676429.1:n.7658T>C
ENST00000374647.9:c.3189T>C	ENSP00000363779.5:p.Ile1063=
ENST00000467959.1:n.69T>C
ENST00000495759.5:c.329T>C
ENST00000537196.1:c.2142T>C	ENSP00000439367.1:p.Ile714=
NM_003640.3:c.3189T>C , LRG_251t1:c.3189T>C	NP_003631.2:p.Ile1063=
XM_005252285.2:c.2847T>C	XP_005252342.1:p.Ile949=
XM_011519136.1:c.3189T>C	XP_011517438.1:p.Ile1063=
XM_011519137.1:c.2847T>C	XP_011517439.1:p.Ile949=
NM_001318360.1:c.2847T>C	NP_001305289.1:p.Ile949=
NM_001330749.1:c.2142T>C	NP_001317678.1:p.Ile714=
NM_003640.4:c.3189T>C	NP_003631.2:p.Ile1063=
XM_011519136.2:c.3189T>C	XP_011517438.1:p.Ile1063=
XR_929859.3:n.3578T>C
NM_003640.5:c.3189T>C MANE Select	NP_003631.2:p.Ile1063=
NM_001318360.2:c.2847T>C	NP_001305289.1:p.Ile949=
NM_001330749.2:c.2142T>C	NP_001317678.1:p.Ile714=