Canonical Allele Identifier: CA466674269

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111662164T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899884T>C , CM000671.2:g.108899884T>C	GRCh38
NC_000009.11:g.111662164T>C , CM000671.1:g.111662164T>C	GRCh37
NC_000009.10:g.110701985T>C	NCBI36
NG_008788.1:g.39445A>G , LRG_251:g.39445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2142A>G MANE Select	ENSP00000363779.5:p.Gly714=
ENST00000495759.6:c.*752A>G	ENSP00000433514.2:n.*752A>G
ENST00000674535.1:c.2142A>G	ENSP00000502142.1:p.Gly714=
ENST00000674704.1:n.3949A>G
ENST00000674836.1:n.2447A>G
ENST00000674890.1:c.2142A>G	ENSP00000501870.1:p.Gly714=
ENST00000674938.1:c.1800A>G	ENSP00000502427.1:p.Gly600=
ENST00000674948.1:c.1800A>G	ENSP00000501602.1:p.Gly600=
ENST00000675052.1:c.2142A>G	ENSP00000502664.1:p.Gly714=
ENST00000675078.1:c.2142A>G	ENSP00000501549.1:p.Gly714=
ENST00000675215.1:c.*1366A>G	ENSP00000502558.1:n.*1366A>G
ENST00000675233.1:n.3969A>G
ENST00000675321.1:c.2142A>G	ENSP00000502751.1:p.Gly714=
ENST00000675325.1:n.3938A>G
ENST00000675335.1:c.2173A>G	ENSP00000502182.1:n.2173A>G
ENST00000675400.1:n.3815A>G
ENST00000675406.1:c.2142A>G	ENSP00000501893.1:p.Gly714=
ENST00000675458.1:c.2235A>G	ENSP00000501754.1:n.2235A>G
ENST00000675507.1:n.3938A>G
ENST00000675535.1:c.2142A>G	ENSP00000501667.1:p.Gly714=
ENST00000675566.1:n.3938A>G
ENST00000675602.1:n.5190A>G
ENST00000675647.1:n.2447A>G
ENST00000675711.1:c.2142A>G	ENSP00000502485.1:p.Gly714=
ENST00000675727.1:c.2142A>G	ENSP00000501722.1:p.Gly714=
ENST00000675748.1:n.3776A>G
ENST00000675765.1:c.2142A>G	ENSP00000502640.1:p.Gly714=
ENST00000675825.1:c.2142A>G	ENSP00000502632.1:p.Gly714=
ENST00000675877.1:n.2447A>G
ENST00000675893.1:c.*3211A>G	ENSP00000502001.1:n.*3211A>G
ENST00000675943.1:n.5757A>G
ENST00000675979.1:c.*1385A>G	ENSP00000502208.1:n.*1385A>G
ENST00000676044.1:c.2142A>G	ENSP00000502378.1:p.Gly714=
ENST00000676086.1:n.3927A>G
ENST00000676121.1:n.3970A>G
ENST00000676237.1:c.2043A>G	ENSP00000501828.1:p.Gly681=
ENST00000676416.1:c.1800A>G	ENSP00000501660.1:p.Gly600=
ENST00000676424.1:n.3938A>G
ENST00000676429.1:n.6611A>G
ENST00000374647.9:c.2142A>G	ENSP00000363779.5:p.Gly714=
ENST00000537196.1:c.1095A>G	ENSP00000439367.1:p.Gly365=
NM_003640.3:c.2142A>G , LRG_251t1:c.2142A>G	NP_003631.2:p.Gly714=
XM_005252285.2:c.1800A>G	XP_005252342.1:p.Gly600=
XM_011519136.1:c.2142A>G	XP_011517438.1:p.Gly714=
XM_011519137.1:c.1800A>G	XP_011517439.1:p.Gly600=
XR_929859.1:n.2458A>G
NM_001318360.1:c.1800A>G	NP_001305289.1:p.Gly600=
NM_001330749.1:c.1095A>G	NP_001317678.1:p.Gly365=
NM_003640.4:c.2142A>G	NP_003631.2:p.Gly714=
XM_011519136.2:c.2142A>G	XP_011517438.1:p.Gly714=
XR_929859.3:n.2469A>G
NM_003640.5:c.2142A>G MANE Select	NP_003631.2:p.Gly714=
NM_001318360.2:c.1800A>G	NP_001305289.1:p.Gly600=
NM_001330749.2:c.1095A>G	NP_001317678.1:p.Gly365=