Canonical Allele Identifier: CA466673083

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111651630A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889350A>T , CM000671.2:g.108889350A>T	GRCh38
NC_000009.11:g.111651630A>T , CM000671.1:g.111651630A>T	GRCh37
NC_000009.10:g.110691451A>T	NCBI36
NG_008788.1:g.49979T>A , LRG_251:g.49979T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3204T>A MANE Select	ENSP00000363779.5:p.Val1068=
ENST00000495759.6:c.*1814T>A	ENSP00000433514.2:n.*1814T>A
ENST00000674535.1:c.3204T>A	ENSP00000502142.1:p.Val1068=
ENST00000674704.1:n.6289T>A
ENST00000674836.1:n.3817T>A
ENST00000674890.1:c.*439T>A	ENSP00000501870.1:n.*439T>A
ENST00000674938.1:c.2862T>A	ENSP00000502427.1:p.Val954=
ENST00000674948.1:c.2862T>A	ENSP00000501602.1:p.Val954=
ENST00000675052.1:c.3204T>A	ENSP00000502664.1:p.Val1068=
ENST00000675078.1:c.3204T>A	ENSP00000501549.1:p.Val1068=
ENST00000675215.1:c.*2428T>A	ENSP00000502558.1:n.*2428T>A
ENST00000675233.1:n.5031T>A
ENST00000675321.1:c.3204T>A	ENSP00000502751.1:p.Val1068=
ENST00000675325.1:n.5161T>A
ENST00000675335.1:c.3235T>A	ENSP00000502182.1:n.3235T>A
ENST00000675400.1:n.4939T>A
ENST00000675406.1:c.3204T>A	ENSP00000501893.1:p.Val1068=
ENST00000675458.1:c.3297T>A	ENSP00000501754.1:n.3297T>A
ENST00000675507.1:n.5000T>A
ENST00000675535.1:c.*831T>A	ENSP00000501667.1:n.*831T>A
ENST00000675566.1:n.5062T>A
ENST00000675602.1:n.6252T>A
ENST00000675647.1:n.4368T>A
ENST00000675711.1:c.3204T>A	ENSP00000502485.1:p.Val1068=
ENST00000675727.1:c.3204T>A	ENSP00000501722.1:p.Val1068=
ENST00000675748.1:n.4838T>A
ENST00000675765.1:c.*587T>A	ENSP00000502640.1:n.*587T>A
ENST00000675825.1:c.3204T>A	ENSP00000502632.1:p.Val1068=
ENST00000675877.1:n.3509T>A
ENST00000675893.1:c.*4273T>A	ENSP00000502001.1:n.*4273T>A
ENST00000675943.1:n.6819T>A
ENST00000675979.1:c.*2447T>A	ENSP00000502208.1:n.*2447T>A
ENST00000676044.1:c.*864T>A	ENSP00000502378.1:n.*864T>A
ENST00000676086.1:n.4989T>A
ENST00000676121.1:n.5032T>A
ENST00000676237.1:c.3105T>A	ENSP00000501828.1:p.Val1035=
ENST00000676416.1:c.2862T>A	ENSP00000501660.1:p.Val954=
ENST00000676424.1:n.5000T>A
ENST00000676429.1:n.7673T>A
ENST00000374647.9:c.3204T>A	ENSP00000363779.5:p.Val1068=
ENST00000467959.1:n.84T>A
ENST00000495759.5:c.344T>A
ENST00000537196.1:c.2157T>A	ENSP00000439367.1:p.Val719=
NM_003640.3:c.3204T>A , LRG_251t1:c.3204T>A	NP_003631.2:p.Val1068=
XM_005252285.2:c.2862T>A	XP_005252342.1:p.Val954=
XM_011519136.1:c.3204T>A	XP_011517438.1:p.Val1068=
XM_011519137.1:c.2862T>A	XP_011517439.1:p.Val954=
NM_001318360.1:c.2862T>A	NP_001305289.1:p.Val954=
NM_001330749.1:c.2157T>A	NP_001317678.1:p.Val719=
NM_003640.4:c.3204T>A	NP_003631.2:p.Val1068=
XM_011519136.2:c.3204T>A	XP_011517438.1:p.Val1068=
XR_929859.3:n.3593T>A
NM_003640.5:c.3204T>A MANE Select	NP_003631.2:p.Val1068=
NM_001318360.2:c.2862T>A	NP_001305289.1:p.Val954=
NM_001330749.2:c.2157T>A	NP_001317678.1:p.Val719=