Canonical Allele Identifier: CA374410563

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108878016G>C , CM000671.2:g.108878016G>C	GRCh38
NC_000009.11:g.111640296G>C , CM000671.1:g.111640296G>C	GRCh37
NC_000009.10:g.110680117G>C	NCBI36
NG_008788.1:g.61313C>G , LRG_251:g.61313C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3834C>G MANE Select	NP_003631.2:p.Tyr1278Ter
ENST00000374647.10:c.3834C>G MANE Select	ENSP00000363779.5:p.Tyr1278Ter
NM_001318360.1:c.3492C>G	NP_001305289.1:p.Tyr1164Ter
NM_001318360.2:c.3492C>G	NP_001305289.1:p.Tyr1164Ter
NM_001330749.1:c.2787C>G	NP_001317678.1:p.Tyr929Ter
NM_001330749.2:c.2787C>G	NP_001317678.1:p.Tyr929Ter
NM_003640.3:c.3834C>G , LRG_251t1:c.3834C>G	NP_003631.2:p.Tyr1278Ter
NM_003640.4:c.3834C>G	NP_003631.2:p.Tyr1278Ter
ENST00000374647.9:c.3834C>G	ENSP00000363779.5:p.Tyr1278Ter
ENST00000495759.5:c.974C>G
ENST00000495759.6:c.*2444C>G	ENSP00000433514.2:n.*2444C>G
ENST00000537196.1:c.2787C>G	ENSP00000439367.1:p.Tyr929Ter
ENST00000674535.1:c.3834C>G	ENSP00000502142.1:p.Tyr1278Ter
ENST00000674704.1:n.6919C>G
ENST00000674740.1:n.717C>G
ENST00000674836.1:n.4447C>G
ENST00000674890.1:c.*1069C>G	ENSP00000501870.1:n.*1069C>G
ENST00000674938.1:c.3492C>G	ENSP00000502427.1:p.Tyr1164Ter
ENST00000674948.1:c.3492C>G	ENSP00000501602.1:p.Tyr1164Ter
ENST00000675052.1:c.3834C>G	ENSP00000502664.1:p.Tyr1278Ter
ENST00000675062.1:n.880C>G
ENST00000675078.1:c.3834C>G	ENSP00000501549.1:p.Tyr1278Ter
ENST00000675215.1:c.*3058C>G	ENSP00000502558.1:n.*3058C>G
ENST00000675233.1:n.5661C>G
ENST00000675321.1:c.3722C>G	ENSP00000502751.1:n.3722C>G
ENST00000675325.1:n.5791C>G
ENST00000675335.1:c.3865C>G	ENSP00000502182.1:n.3865C>G
ENST00000675370.1:n.500C>G
ENST00000675400.1:n.5686C>G
ENST00000675406.1:c.3834C>G	ENSP00000501893.1:p.Tyr1278Ter
ENST00000675458.1:c.3927C>G	ENSP00000501754.1:n.3927C>G
ENST00000675507.1:n.5630C>G
ENST00000675535.1:c.*1461C>G	ENSP00000501667.1:n.*1461C>G
ENST00000675566.1:n.5692C>G
ENST00000675580.1:n.987C>G
ENST00000675602.1:n.6882C>G
ENST00000675647.1:n.4998C>G
ENST00000675711.1:c.3951C>G	ENSP00000502485.1:n.3951C>G
ENST00000675727.1:c.3834C>G	ENSP00000501722.1:p.Tyr1278Ter
ENST00000675748.1:n.5468C>G
ENST00000675765.1:c.*1217C>G	ENSP00000502640.1:n.*1217C>G
ENST00000675825.1:c.3876C>G	ENSP00000502632.1:p.Tyr1292Ter
ENST00000675877.1:n.5678C>G
ENST00000675893.1:c.*4903C>G	ENSP00000502001.1:n.*4903C>G
ENST00000675943.1:n.7449C>G
ENST00000675979.1:c.*3077C>G	ENSP00000502208.1:n.*3077C>G
ENST00000676044.1:c.*1494C>G	ENSP00000502378.1:n.*1494C>G
ENST00000676086.1:n.5619C>G
ENST00000676121.1:n.5662C>G
ENST00000676162.1:n.563C>G
ENST00000676237.1:c.3777C>G	ENSP00000501828.1:p.Tyr1259Ter
ENST00000676416.1:c.3534C>G	ENSP00000501660.1:p.Tyr1178Ter
ENST00000676424.1:n.5672C>G
ENST00000676429.1:n.8303C>G
XM_005252285.2:c.3492C>G	XP_005252342.1:p.Tyr1164Ter
XM_011519136.1:c.3876C>G	XP_011517438.1:p.Tyr1292Ter
XM_011519136.2:c.3876C>G	XP_011517438.1:p.Tyr1292Ter
XM_011519137.1:c.3534C>G	XP_011517439.1:p.Tyr1178Ter
XR_929859.3:n.4223C>G