Canonical Allele Identifier: CA374414890

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111651635T>A (hg19) ; chr9:g.108889355T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889355T>A , CM000671.2:g.108889355T>A	GRCh38
NC_000009.11:g.111651635T>A , CM000671.1:g.111651635T>A	GRCh37
NC_000009.10:g.110691456T>A	NCBI36
NG_008788.1:g.49974A>T , LRG_251:g.49974A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3199A>T MANE Select	ENSP00000363779.5:p.Met1067Leu
ENST00000495759.6:c.*1809A>T	ENSP00000433514.2:n.*1809A>T
ENST00000674535.1:c.3199A>T	ENSP00000502142.1:p.Met1067Leu
ENST00000674704.1:n.6284A>T
ENST00000674836.1:n.3812A>T
ENST00000674890.1:c.*434A>T	ENSP00000501870.1:n.*434A>T
ENST00000674938.1:c.2857A>T	ENSP00000502427.1:p.Met953Leu
ENST00000674948.1:c.2857A>T	ENSP00000501602.1:p.Met953Leu
ENST00000675052.1:c.3199A>T	ENSP00000502664.1:p.Met1067Leu
ENST00000675078.1:c.3199A>T	ENSP00000501549.1:p.Met1067Leu
ENST00000675215.1:c.*2423A>T	ENSP00000502558.1:n.*2423A>T
ENST00000675233.1:n.5026A>T
ENST00000675321.1:c.3199A>T	ENSP00000502751.1:p.Met1067Leu
ENST00000675325.1:n.5156A>T
ENST00000675335.1:c.3230A>T	ENSP00000502182.1:n.3230A>T
ENST00000675400.1:n.4934A>T
ENST00000675406.1:c.3199A>T	ENSP00000501893.1:p.Met1067Leu
ENST00000675458.1:c.3292A>T	ENSP00000501754.1:n.3292A>T
ENST00000675507.1:n.4995A>T
ENST00000675535.1:c.*826A>T	ENSP00000501667.1:n.*826A>T
ENST00000675566.1:n.5057A>T
ENST00000675602.1:n.6247A>T
ENST00000675647.1:n.4363A>T
ENST00000675711.1:c.3199A>T	ENSP00000502485.1:p.Met1067Leu
ENST00000675727.1:c.3199A>T	ENSP00000501722.1:p.Met1067Leu
ENST00000675748.1:n.4833A>T
ENST00000675765.1:c.*582A>T	ENSP00000502640.1:n.*582A>T
ENST00000675825.1:c.3199A>T	ENSP00000502632.1:p.Met1067Leu
ENST00000675877.1:n.3504A>T
ENST00000675893.1:c.*4268A>T	ENSP00000502001.1:n.*4268A>T
ENST00000675943.1:n.6814A>T
ENST00000675979.1:c.*2442A>T	ENSP00000502208.1:n.*2442A>T
ENST00000676044.1:c.*859A>T	ENSP00000502378.1:n.*859A>T
ENST00000676086.1:n.4984A>T
ENST00000676121.1:n.5027A>T
ENST00000676237.1:c.3100A>T	ENSP00000501828.1:p.Met1034Leu
ENST00000676416.1:c.2857A>T	ENSP00000501660.1:p.Met953Leu
ENST00000676424.1:n.4995A>T
ENST00000676429.1:n.7668A>T
ENST00000374647.9:c.3199A>T	ENSP00000363779.5:p.Met1067Leu
ENST00000467959.1:n.79A>T
ENST00000495759.5:c.339A>T
ENST00000537196.1:c.2152A>T	ENSP00000439367.1:p.Met718Leu
NM_003640.3:c.3199A>T , LRG_251t1:c.3199A>T	NP_003631.2:p.Met1067Leu
XM_005252285.2:c.2857A>T	XP_005252342.1:p.Met953Leu
XM_011519136.1:c.3199A>T	XP_011517438.1:p.Met1067Leu
XM_011519137.1:c.2857A>T	XP_011517439.1:p.Met953Leu
NM_001318360.1:c.2857A>T	NP_001305289.1:p.Met953Leu
NM_001330749.1:c.2152A>T	NP_001317678.1:p.Met718Leu
NM_003640.4:c.3199A>T	NP_003631.2:p.Met1067Leu
XM_011519136.2:c.3199A>T	XP_011517438.1:p.Met1067Leu
XR_929859.3:n.3588A>T
NM_003640.5:c.3199A>T MANE Select	NP_003631.2:p.Met1067Leu
NM_001318360.2:c.2857A>T	NP_001305289.1:p.Met953Leu
NM_001330749.2:c.2152A>T	NP_001317678.1:p.Met718Leu