Canonical Allele Identifier: CA374423211

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111662167C>A (hg19) ; chr9:g.108899887C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899887C>A , CM000671.2:g.108899887C>A	GRCh38
NC_000009.11:g.111662167C>A , CM000671.1:g.111662167C>A	GRCh37
NC_000009.10:g.110701988C>A	NCBI36
NG_008788.1:g.39442G>T , LRG_251:g.39442G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2139G>T MANE Select	ENSP00000363779.5:p.Arg713Ser
ENST00000495759.6:c.*749G>T	ENSP00000433514.2:n.*749G>T
ENST00000674535.1:c.2139G>T	ENSP00000502142.1:p.Arg713Ser
ENST00000674704.1:n.3946G>T
ENST00000674836.1:n.2444G>T
ENST00000674890.1:c.2139G>T	ENSP00000501870.1:p.Arg713Ser
ENST00000674938.1:c.1797G>T	ENSP00000502427.1:p.Arg599Ser
ENST00000674948.1:c.1797G>T	ENSP00000501602.1:p.Arg599Ser
ENST00000675052.1:c.2139G>T	ENSP00000502664.1:p.Arg713Ser
ENST00000675078.1:c.2139G>T	ENSP00000501549.1:p.Arg713Ser
ENST00000675215.1:c.*1363G>T	ENSP00000502558.1:n.*1363G>T
ENST00000675233.1:n.3966G>T
ENST00000675321.1:c.2139G>T	ENSP00000502751.1:p.Arg713Ser
ENST00000675325.1:n.3935G>T
ENST00000675335.1:c.2170G>T	ENSP00000502182.1:n.2170G>T
ENST00000675400.1:n.3812G>T
ENST00000675406.1:c.2139G>T	ENSP00000501893.1:p.Arg713Ser
ENST00000675458.1:c.2232G>T	ENSP00000501754.1:n.2232G>T
ENST00000675507.1:n.3935G>T
ENST00000675535.1:c.2139G>T	ENSP00000501667.1:p.Arg713Ser
ENST00000675566.1:n.3935G>T
ENST00000675602.1:n.5187G>T
ENST00000675647.1:n.2444G>T
ENST00000675711.1:c.2139G>T	ENSP00000502485.1:p.Arg713Ser
ENST00000675727.1:c.2139G>T	ENSP00000501722.1:p.Arg713Ser
ENST00000675748.1:n.3773G>T
ENST00000675765.1:c.2139G>T	ENSP00000502640.1:p.Arg713Ser
ENST00000675825.1:c.2139G>T	ENSP00000502632.1:p.Arg713Ser
ENST00000675877.1:n.2444G>T
ENST00000675893.1:c.*3208G>T	ENSP00000502001.1:n.*3208G>T
ENST00000675943.1:n.5754G>T
ENST00000675979.1:c.*1382G>T	ENSP00000502208.1:n.*1382G>T
ENST00000676044.1:c.2139G>T	ENSP00000502378.1:p.Arg713Ser
ENST00000676086.1:n.3924G>T
ENST00000676121.1:n.3967G>T
ENST00000676237.1:c.2040G>T	ENSP00000501828.1:p.Arg680Ser
ENST00000676416.1:c.1797G>T	ENSP00000501660.1:p.Arg599Ser
ENST00000676424.1:n.3935G>T
ENST00000676429.1:n.6608G>T
ENST00000374647.9:c.2139G>T	ENSP00000363779.5:p.Arg713Ser
ENST00000537196.1:c.1092G>T	ENSP00000439367.1:p.Arg364Ser
NM_003640.3:c.2139G>T , LRG_251t1:c.2139G>T	NP_003631.2:p.Arg713Ser
XM_005252285.2:c.1797G>T	XP_005252342.1:p.Arg599Ser
XM_011519136.1:c.2139G>T	XP_011517438.1:p.Arg713Ser
XM_011519137.1:c.1797G>T	XP_011517439.1:p.Arg599Ser
XR_929859.1:n.2455G>T
NM_001318360.1:c.1797G>T	NP_001305289.1:p.Arg599Ser
NM_001330749.1:c.1092G>T	NP_001317678.1:p.Arg364Ser
NM_003640.4:c.2139G>T	NP_003631.2:p.Arg713Ser
XM_011519136.2:c.2139G>T	XP_011517438.1:p.Arg713Ser
XR_929859.3:n.2466G>T
NM_003640.5:c.2139G>T MANE Select	NP_003631.2:p.Arg713Ser
NM_001318360.2:c.1797G>T	NP_001305289.1:p.Arg599Ser
NM_001330749.2:c.1092G>T	NP_001317678.1:p.Arg364Ser