Canonical Allele Identifier: CA466672554

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641749G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879469G>T , CM000671.2:g.108879469G>T	GRCh38
NC_000009.11:g.111641749G>T , CM000671.1:g.111641749G>T	GRCh37
NC_000009.10:g.110681570G>T	NCBI36
NG_008788.1:g.59860C>A , LRG_251:g.59860C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3549C>A MANE Select	ENSP00000363779.5:p.Ser1183=
ENST00000495759.6:c.*2159C>A	ENSP00000433514.2:n.*2159C>A
ENST00000674535.1:c.3549C>A	ENSP00000502142.1:p.Ser1183=
ENST00000674704.1:n.6634C>A
ENST00000674740.1:n.432C>A
ENST00000674836.1:n.4162C>A
ENST00000674890.1:c.*784C>A	ENSP00000501870.1:n.*784C>A
ENST00000674938.1:c.3207C>A	ENSP00000502427.1:p.Ser1069=
ENST00000674948.1:c.3207C>A	ENSP00000501602.1:p.Ser1069=
ENST00000675052.1:c.3549C>A	ENSP00000502664.1:p.Ser1183=
ENST00000675062.1:n.595C>A
ENST00000675078.1:c.3549C>A	ENSP00000501549.1:p.Ser1183=
ENST00000675215.1:c.*2773C>A	ENSP00000502558.1:n.*2773C>A
ENST00000675233.1:n.5376C>A
ENST00000675321.1:c.3460+583C>A	ENSP00000502751.1:n.3460+583C>A
ENST00000675325.1:n.5506C>A
ENST00000675335.1:c.3580C>A	ENSP00000502182.1:n.3580C>A
ENST00000675400.1:n.5401C>A
ENST00000675406.1:c.3549C>A	ENSP00000501893.1:p.Ser1183=
ENST00000675458.1:c.3642C>A	ENSP00000501754.1:n.3642C>A
ENST00000675507.1:n.5345C>A
ENST00000675535.1:c.*1176C>A	ENSP00000501667.1:n.*1176C>A
ENST00000675566.1:n.5407C>A
ENST00000675580.1:n.702C>A
ENST00000675602.1:n.6597C>A
ENST00000675647.1:n.4713C>A
ENST00000675711.1:c.3666C>A	ENSP00000502485.1:n.3666C>A
ENST00000675727.1:c.3549C>A	ENSP00000501722.1:p.Ser1183=
ENST00000675748.1:n.5183C>A
ENST00000675765.1:c.*932C>A	ENSP00000502640.1:n.*932C>A
ENST00000675825.1:c.3591C>A	ENSP00000502632.1:p.Ser1197=
ENST00000675877.1:n.5393C>A
ENST00000675893.1:c.*4618C>A	ENSP00000502001.1:n.*4618C>A
ENST00000675943.1:n.7164C>A
ENST00000675979.1:c.*2792C>A	ENSP00000502208.1:n.*2792C>A
ENST00000676044.1:c.*1209C>A	ENSP00000502378.1:n.*1209C>A
ENST00000676086.1:n.5334C>A
ENST00000676121.1:n.5377C>A
ENST00000676162.1:n.278C>A
ENST00000676237.1:c.3492C>A	ENSP00000501828.1:p.Ser1164=
ENST00000676416.1:c.3249C>A	ENSP00000501660.1:p.Ser1083=
ENST00000676424.1:n.5387C>A
ENST00000676429.1:n.8018C>A
ENST00000374647.9:c.3549C>A	ENSP00000363779.5:p.Ser1183=
ENST00000467959.1:n.429C>A
ENST00000495759.5:c.689C>A
ENST00000537196.1:c.2502C>A	ENSP00000439367.1:p.Ser834=
NM_003640.3:c.3549C>A , LRG_251t1:c.3549C>A	NP_003631.2:p.Ser1183=
XM_005252285.2:c.3207C>A	XP_005252342.1:p.Ser1069=
XM_011519136.1:c.3591C>A	XP_011517438.1:p.Ser1197=
XM_011519137.1:c.3249C>A	XP_011517439.1:p.Ser1083=
NM_001318360.1:c.3207C>A	NP_001305289.1:p.Ser1069=
NM_001330749.1:c.2502C>A	NP_001317678.1:p.Ser834=
NM_003640.4:c.3549C>A	NP_003631.2:p.Ser1183=
XM_011519136.2:c.3591C>A	XP_011517438.1:p.Ser1197=
XR_929859.3:n.3938C>A
NM_003640.5:c.3549C>A MANE Select	NP_003631.2:p.Ser1183=
NM_001318360.2:c.3207C>A	NP_001305289.1:p.Ser1069=
NM_001330749.2:c.2502C>A	NP_001317678.1:p.Ser834=