Canonical Allele Identifier: CA374411566

Gene: ELP1

Linked Data

• gnomAD v4: 9-108879453-T-C
• MyVariant Identifiers: chr9:g.111641733T>C (hg19) ; chr9:g.108879453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879453T>C , CM000671.2:g.108879453T>C	GRCh38
NC_000009.11:g.111641733T>C , CM000671.1:g.111641733T>C	GRCh37
NC_000009.10:g.110681554T>C	NCBI36
NG_008788.1:g.59876A>G , LRG_251:g.59876A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3565A>G MANE Select	ENSP00000363779.5:p.Ile1189Val
ENST00000495759.6:c.*2175A>G	ENSP00000433514.2:n.*2175A>G
ENST00000674535.1:c.3565A>G	ENSP00000502142.1:p.Ile1189Val
ENST00000674704.1:n.6650A>G
ENST00000674740.1:n.448A>G
ENST00000674836.1:n.4178A>G
ENST00000674890.1:c.*800A>G	ENSP00000501870.1:n.*800A>G
ENST00000674938.1:c.3223A>G	ENSP00000502427.1:p.Ile1075Val
ENST00000674948.1:c.3223A>G	ENSP00000501602.1:p.Ile1075Val
ENST00000675052.1:c.3565A>G	ENSP00000502664.1:p.Ile1189Val
ENST00000675062.1:n.611A>G
ENST00000675078.1:c.3565A>G	ENSP00000501549.1:p.Ile1189Val
ENST00000675215.1:c.*2789A>G	ENSP00000502558.1:n.*2789A>G
ENST00000675233.1:n.5392A>G
ENST00000675321.1:c.3460+599A>G	ENSP00000502751.1:n.3460+599A>G
ENST00000675325.1:n.5522A>G
ENST00000675335.1:c.3596A>G	ENSP00000502182.1:n.3596A>G
ENST00000675400.1:n.5417A>G
ENST00000675406.1:c.3565A>G	ENSP00000501893.1:p.Ile1189Val
ENST00000675458.1:c.3658A>G	ENSP00000501754.1:n.3658A>G
ENST00000675507.1:n.5361A>G
ENST00000675535.1:c.*1192A>G	ENSP00000501667.1:n.*1192A>G
ENST00000675566.1:n.5423A>G
ENST00000675580.1:n.718A>G
ENST00000675602.1:n.6613A>G
ENST00000675647.1:n.4729A>G
ENST00000675711.1:c.3682A>G	ENSP00000502485.1:n.3682A>G
ENST00000675727.1:c.3565A>G	ENSP00000501722.1:p.Ile1189Val
ENST00000675748.1:n.5199A>G
ENST00000675765.1:c.*948A>G	ENSP00000502640.1:n.*948A>G
ENST00000675825.1:c.3607A>G	ENSP00000502632.1:p.Ile1203Val
ENST00000675877.1:n.5409A>G
ENST00000675893.1:c.*4634A>G	ENSP00000502001.1:n.*4634A>G
ENST00000675943.1:n.7180A>G
ENST00000675979.1:c.*2808A>G	ENSP00000502208.1:n.*2808A>G
ENST00000676044.1:c.*1225A>G	ENSP00000502378.1:n.*1225A>G
ENST00000676086.1:n.5350A>G
ENST00000676121.1:n.5393A>G
ENST00000676162.1:n.294A>G
ENST00000676237.1:c.3508A>G	ENSP00000501828.1:p.Ile1170Val
ENST00000676416.1:c.3265A>G	ENSP00000501660.1:p.Ile1089Val
ENST00000676424.1:n.5403A>G
ENST00000676429.1:n.8034A>G
ENST00000374647.9:c.3565A>G	ENSP00000363779.5:p.Ile1189Val
ENST00000495759.5:c.705A>G
ENST00000537196.1:c.2518A>G	ENSP00000439367.1:p.Ile840Val
NM_003640.3:c.3565A>G , LRG_251t1:c.3565A>G	NP_003631.2:p.Ile1189Val
XM_005252285.2:c.3223A>G	XP_005252342.1:p.Ile1075Val
XM_011519136.1:c.3607A>G	XP_011517438.1:p.Ile1203Val
XM_011519137.1:c.3265A>G	XP_011517439.1:p.Ile1089Val
NM_001318360.1:c.3223A>G	NP_001305289.1:p.Ile1075Val
NM_001330749.1:c.2518A>G	NP_001317678.1:p.Ile840Val
NM_003640.4:c.3565A>G	NP_003631.2:p.Ile1189Val
XM_011519136.2:c.3607A>G	XP_011517438.1:p.Ile1203Val
XR_929859.3:n.3954A>G
NM_003640.5:c.3565A>G MANE Select	NP_003631.2:p.Ile1189Val
NM_001318360.2:c.3223A>G	NP_001305289.1:p.Ile1075Val
NM_001330749.2:c.2518A>G	NP_001317678.1:p.Ile840Val