Canonical Allele Identifier: CA5174275

Gene: ELP1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879505A>G , CM000671.2:g.108879505A>G	GRCh38
NC_000009.11:g.111641785A>G , CM000671.1:g.111641785A>G	GRCh37
NC_000009.10:g.110681606A>G	NCBI36
NG_008788.1:g.59824T>C , LRG_251:g.59824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3513T>C MANE Select	ENSP00000363779.5:p.Ser1171=
ENST00000495759.6:c.*2123T>C	ENSP00000433514.2:n.*2123T>C
ENST00000674535.1:c.3513T>C	ENSP00000502142.1:p.Ser1171=
ENST00000674704.1:n.6598T>C
ENST00000674740.1:n.396T>C
ENST00000674836.1:n.4126T>C
ENST00000674890.1:c.*748T>C	ENSP00000501870.1:n.*748T>C
ENST00000674938.1:c.3171T>C	ENSP00000502427.1:p.Ser1057=
ENST00000674948.1:c.3171T>C	ENSP00000501602.1:p.Ser1057=
ENST00000675052.1:c.3513T>C	ENSP00000502664.1:p.Ser1171=
ENST00000675062.1:n.559T>C
ENST00000675078.1:c.3513T>C	ENSP00000501549.1:p.Ser1171=
ENST00000675215.1:c.*2737T>C	ENSP00000502558.1:n.*2737T>C
ENST00000675233.1:n.5340T>C
ENST00000675321.1:c.3460+547T>C	ENSP00000502751.1:n.3460+547T>C
ENST00000675325.1:n.5470T>C
ENST00000675335.1:c.3544T>C	ENSP00000502182.1:n.3544T>C
ENST00000675400.1:n.5365T>C
ENST00000675406.1:c.3513T>C	ENSP00000501893.1:p.Ser1171=
ENST00000675458.1:c.3606T>C	ENSP00000501754.1:n.3606T>C
ENST00000675507.1:n.5309T>C
ENST00000675535.1:c.*1140T>C	ENSP00000501667.1:n.*1140T>C
ENST00000675566.1:n.5371T>C
ENST00000675580.1:n.666T>C
ENST00000675602.1:n.6561T>C
ENST00000675647.1:n.4677T>C
ENST00000675711.1:c.3630T>C	ENSP00000502485.1:n.3630T>C
ENST00000675727.1:c.3513T>C	ENSP00000501722.1:p.Ser1171=
ENST00000675748.1:n.5147T>C
ENST00000675765.1:c.*896T>C	ENSP00000502640.1:n.*896T>C
ENST00000675825.1:c.3555T>C	ENSP00000502632.1:p.Ser1185=
ENST00000675877.1:n.5357T>C
ENST00000675893.1:c.*4582T>C	ENSP00000502001.1:n.*4582T>C
ENST00000675943.1:n.7128T>C
ENST00000675979.1:c.*2756T>C	ENSP00000502208.1:n.*2756T>C
ENST00000676044.1:c.*1173T>C	ENSP00000502378.1:n.*1173T>C
ENST00000676086.1:n.5298T>C
ENST00000676121.1:n.5341T>C
ENST00000676162.1:n.242T>C
ENST00000676237.1:c.3456T>C	ENSP00000501828.1:p.Ser1152=
ENST00000676416.1:c.3213T>C	ENSP00000501660.1:p.Ser1071=
ENST00000676424.1:n.5351T>C
ENST00000676429.1:n.7982T>C
ENST00000374647.9:c.3513T>C	ENSP00000363779.5:p.Ser1171=
ENST00000467959.1:n.393T>C
ENST00000495759.5:c.653T>C
ENST00000537196.1:c.2466T>C	ENSP00000439367.1:p.Ser822=
NM_003640.3:c.3513T>C , LRG_251t1:c.3513T>C	NP_003631.2:p.Ser1171=
XM_005252285.2:c.3171T>C	XP_005252342.1:p.Ser1057=
XM_011519136.1:c.3555T>C	XP_011517438.1:p.Ser1185=
XM_011519137.1:c.3213T>C	XP_011517439.1:p.Ser1071=
NM_001318360.1:c.3171T>C	NP_001305289.1:p.Ser1057=
NM_001330749.1:c.2466T>C	NP_001317678.1:p.Ser822=
NM_003640.4:c.3513T>C	NP_003631.2:p.Ser1171=
XM_011519136.2:c.3555T>C	XP_011517438.1:p.Ser1185=
XR_929859.3:n.3902T>C
NM_003640.5:c.3513T>C MANE Select	NP_003631.2:p.Ser1171=
NM_001318360.2:c.3171T>C	NP_001305289.1:p.Ser1057=
NM_001330749.2:c.2466T>C	NP_001317678.1:p.Ser822=