Canonical Allele Identifier: CA5174311

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108880071T>C , CM000671.2:g.108880071T>C	GRCh38
NC_000009.11:g.111642351T>C , CM000671.1:g.111642351T>C	GRCh37
NC_000009.10:g.110682172T>C	NCBI36
NG_008788.1:g.59258A>G , LRG_251:g.59258A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3441A>G MANE Select	NP_003631.2:p.Gln1147=
ENST00000374647.10:c.3441A>G MANE Select	ENSP00000363779.5:p.Gln1147=
NM_001318360.1:c.3099A>G	NP_001305289.1:p.Gln1033=
NM_001318360.2:c.3099A>G	NP_001305289.1:p.Gln1033=
NM_001330749.1:c.2394A>G	NP_001317678.1:p.Gln798=
NM_001330749.2:c.2394A>G	NP_001317678.1:p.Gln798=
NM_003640.3:c.3441A>G , LRG_251t1:c.3441A>G	NP_003631.2:p.Gln1147=
NM_003640.4:c.3441A>G	NP_003631.2:p.Gln1147=
ENST00000374647.9:c.3441A>G	ENSP00000363779.5:p.Gln1147=
ENST00000467959.1:n.321A>G
ENST00000495759.5:c.581A>G
ENST00000495759.6:c.*2051A>G	ENSP00000433514.2:n.*2051A>G
ENST00000537196.1:c.2394A>G	ENSP00000439367.1:p.Gln798=
ENST00000674535.1:c.3441A>G	ENSP00000502142.1:p.Gln1147=
ENST00000674704.1:n.6526A>G
ENST00000674740.1:n.324A>G
ENST00000674836.1:n.4054A>G
ENST00000674890.1:c.*676A>G	ENSP00000501870.1:n.*676A>G
ENST00000674938.1:c.3099A>G	ENSP00000502427.1:p.Gln1033=
ENST00000674948.1:c.3099A>G	ENSP00000501602.1:p.Gln1033=
ENST00000675052.1:c.3441A>G	ENSP00000502664.1:p.Gln1147=
ENST00000675062.1:n.487A>G
ENST00000675078.1:c.3441A>G	ENSP00000501549.1:p.Gln1147=
ENST00000675215.1:c.*2665A>G	ENSP00000502558.1:n.*2665A>G
ENST00000675233.1:n.5268A>G
ENST00000675321.1:c.3441A>G	ENSP00000502751.1:p.Gln1147=
ENST00000675325.1:n.5398A>G
ENST00000675335.1:c.3472A>G	ENSP00000502182.1:n.3472A>G
ENST00000675400.1:n.5293A>G
ENST00000675406.1:c.3441A>G	ENSP00000501893.1:p.Gln1147=
ENST00000675458.1:c.3534A>G	ENSP00000501754.1:n.3534A>G
ENST00000675507.1:n.5237A>G
ENST00000675535.1:c.*1068A>G	ENSP00000501667.1:n.*1068A>G
ENST00000675566.1:n.5299A>G
ENST00000675580.1:n.594A>G
ENST00000675602.1:n.6489A>G
ENST00000675647.1:n.4605A>G
ENST00000675711.1:c.3558A>G	ENSP00000502485.1:n.3558A>G
ENST00000675727.1:c.3441A>G	ENSP00000501722.1:p.Gln1147=
ENST00000675748.1:n.5075A>G
ENST00000675765.1:c.*824A>G	ENSP00000502640.1:n.*824A>G
ENST00000675825.1:c.3483A>G	ENSP00000502632.1:p.Gln1161=
ENST00000675877.1:n.5285A>G
ENST00000675893.1:c.*4510A>G	ENSP00000502001.1:n.*4510A>G
ENST00000675943.1:n.7056A>G
ENST00000675979.1:c.*2684A>G	ENSP00000502208.1:n.*2684A>G
ENST00000676044.1:c.*1101A>G	ENSP00000502378.1:n.*1101A>G
ENST00000676086.1:n.5226A>G
ENST00000676121.1:n.5269A>G
ENST00000676162.1:n.170A>G
ENST00000676237.1:c.3384A>G	ENSP00000501828.1:p.Gln1128=
ENST00000676416.1:c.3141A>G	ENSP00000501660.1:p.Gln1047=
ENST00000676424.1:n.5279A>G
ENST00000676429.1:n.7910A>G
XM_005252285.2:c.3099A>G	XP_005252342.1:p.Gln1033=
XM_011519136.1:c.3483A>G	XP_011517438.1:p.Gln1161=
XM_011519136.2:c.3483A>G	XP_011517438.1:p.Gln1161=
XM_011519137.1:c.3141A>G	XP_011517439.1:p.Gln1047=
XR_929859.3:n.3830A>G