Canonical Allele Identifier: CA466674235

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111662119A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899839A>G , CM000671.2:g.108899839A>G	GRCh38
NC_000009.11:g.111662119A>G , CM000671.1:g.111662119A>G	GRCh37
NC_000009.10:g.110701940A>G	NCBI36
NG_008788.1:g.39490T>C , LRG_251:g.39490T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2187T>C MANE Select	ENSP00000363779.5:p.Ile729=
ENST00000495759.6:c.*797T>C	ENSP00000433514.2:n.*797T>C
ENST00000674535.1:c.2187T>C	ENSP00000502142.1:p.Ile729=
ENST00000674704.1:n.3994T>C
ENST00000674836.1:n.2492T>C
ENST00000674890.1:c.2187T>C	ENSP00000501870.1:p.Ile729=
ENST00000674938.1:c.1845T>C	ENSP00000502427.1:p.Ile615=
ENST00000674948.1:c.1845T>C	ENSP00000501602.1:p.Ile615=
ENST00000675052.1:c.2187T>C	ENSP00000502664.1:p.Ile729=
ENST00000675078.1:c.2187T>C	ENSP00000501549.1:p.Ile729=
ENST00000675215.1:c.*1411T>C	ENSP00000502558.1:n.*1411T>C
ENST00000675233.1:n.4014T>C
ENST00000675321.1:c.2187T>C	ENSP00000502751.1:p.Ile729=
ENST00000675325.1:n.3983T>C
ENST00000675335.1:c.2218T>C	ENSP00000502182.1:n.2218T>C
ENST00000675400.1:n.3860T>C
ENST00000675406.1:c.2187T>C	ENSP00000501893.1:p.Ile729=
ENST00000675458.1:c.2280T>C	ENSP00000501754.1:n.2280T>C
ENST00000675507.1:n.3983T>C
ENST00000675535.1:c.2187T>C	ENSP00000501667.1:p.Ile729=
ENST00000675566.1:n.3983T>C
ENST00000675602.1:n.5235T>C
ENST00000675647.1:n.2492T>C
ENST00000675711.1:c.2187T>C	ENSP00000502485.1:p.Ile729=
ENST00000675727.1:c.2187T>C	ENSP00000501722.1:p.Ile729=
ENST00000675748.1:n.3821T>C
ENST00000675765.1:c.2187T>C	ENSP00000502640.1:p.Ile729=
ENST00000675825.1:c.2187T>C	ENSP00000502632.1:p.Ile729=
ENST00000675877.1:n.2492T>C
ENST00000675893.1:c.*3256T>C	ENSP00000502001.1:n.*3256T>C
ENST00000675943.1:n.5802T>C
ENST00000675979.1:c.*1430T>C	ENSP00000502208.1:n.*1430T>C
ENST00000676044.1:c.2187T>C	ENSP00000502378.1:p.Ile729=
ENST00000676086.1:n.3972T>C
ENST00000676121.1:n.4015T>C
ENST00000676237.1:c.2088T>C	ENSP00000501828.1:p.Ile696=
ENST00000676416.1:c.1845T>C	ENSP00000501660.1:p.Ile615=
ENST00000676424.1:n.3983T>C
ENST00000676429.1:n.6656T>C
ENST00000374647.9:c.2187T>C	ENSP00000363779.5:p.Ile729=
ENST00000537196.1:c.1140T>C	ENSP00000439367.1:p.Ile380=
NM_003640.3:c.2187T>C , LRG_251t1:c.2187T>C	NP_003631.2:p.Ile729=
XM_005252285.2:c.1845T>C	XP_005252342.1:p.Ile615=
XM_011519136.1:c.2187T>C	XP_011517438.1:p.Ile729=
XM_011519137.1:c.1845T>C	XP_011517439.1:p.Ile615=
XR_929859.1:n.2503T>C
NM_001318360.1:c.1845T>C	NP_001305289.1:p.Ile615=
NM_001330749.1:c.1140T>C	NP_001317678.1:p.Ile380=
NM_003640.4:c.2187T>C	NP_003631.2:p.Ile729=
XM_011519136.2:c.2187T>C	XP_011517438.1:p.Ile729=
XR_929859.3:n.2514T>C
NM_003640.5:c.2187T>C MANE Select	NP_003631.2:p.Ile729=
NM_001318360.2:c.1845T>C	NP_001305289.1:p.Ile615=
NM_001330749.2:c.1140T>C	NP_001317678.1:p.Ile380=