Canonical Allele Identifier: CA374419191

Gene: ELP1

Linked Data

• gnomAD v4: 9-108894062-G-T
• MyVariant Identifiers: chr9:g.111656342G>T (hg19) ; chr9:g.108894062G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108894062G>T , CM000671.2:g.108894062G>T	GRCh38
NC_000009.11:g.111656342G>T , CM000671.1:g.111656342G>T	GRCh37
NC_000009.10:g.110696163G>T	NCBI36
NG_008788.1:g.45267C>A , LRG_251:g.45267C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2741C>A MANE Select	ENSP00000363779.5:p.Pro914His
ENST00000495759.6:c.*1351C>A	ENSP00000433514.2:n.*1351C>A
ENST00000674535.1:c.2741C>A	ENSP00000502142.1:p.Pro914His
ENST00000674704.1:n.5826C>A
ENST00000674836.1:n.3354C>A
ENST00000674890.1:c.2763C>A	ENSP00000501870.1:p.Ser921=
ENST00000674938.1:c.2399C>A	ENSP00000502427.1:p.Pro800His
ENST00000674948.1:c.2399C>A	ENSP00000501602.1:p.Pro800His
ENST00000675052.1:c.2741C>A	ENSP00000502664.1:p.Pro914His
ENST00000675078.1:c.2741C>A	ENSP00000501549.1:p.Pro914His
ENST00000675215.1:c.*1965C>A	ENSP00000502558.1:n.*1965C>A
ENST00000675233.1:n.4568C>A
ENST00000675321.1:c.2741C>A	ENSP00000502751.1:p.Pro914His
ENST00000675325.1:n.4698C>A
ENST00000675335.1:c.2772C>A	ENSP00000502182.1:n.2772C>A
ENST00000675400.1:n.4476C>A
ENST00000675406.1:c.2741C>A	ENSP00000501893.1:p.Pro914His
ENST00000675458.1:c.2834C>A	ENSP00000501754.1:n.2834C>A
ENST00000675507.1:n.4537C>A
ENST00000675535.1:c.*368C>A	ENSP00000501667.1:n.*368C>A
ENST00000675566.1:n.4599C>A
ENST00000675602.1:n.5789C>A
ENST00000675647.1:n.3046C>A
ENST00000675711.1:c.2741C>A	ENSP00000502485.1:p.Pro914His
ENST00000675727.1:c.2741C>A	ENSP00000501722.1:p.Pro914His
ENST00000675748.1:n.4375C>A
ENST00000675765.1:c.*124C>A	ENSP00000502640.1:n.*124C>A
ENST00000675825.1:c.2741C>A	ENSP00000502632.1:p.Pro914His
ENST00000675877.1:n.3046C>A
ENST00000675893.1:c.*3810C>A	ENSP00000502001.1:n.*3810C>A
ENST00000675943.1:n.6356C>A
ENST00000675979.1:c.*1984C>A	ENSP00000502208.1:n.*1984C>A
ENST00000676044.1:c.*401C>A	ENSP00000502378.1:n.*401C>A
ENST00000676086.1:n.4526C>A
ENST00000676121.1:n.4569C>A
ENST00000676237.1:c.2642C>A	ENSP00000501828.1:p.Pro881His
ENST00000676416.1:c.2399C>A	ENSP00000501660.1:p.Pro800His
ENST00000676424.1:n.4537C>A
ENST00000676429.1:n.7210C>A
ENST00000374647.9:c.2741C>A	ENSP00000363779.5:p.Pro914His
ENST00000537196.1:c.1694C>A	ENSP00000439367.1:p.Pro565His
NM_003640.3:c.2741C>A , LRG_251t1:c.2741C>A	NP_003631.2:p.Pro914His
XM_005252285.2:c.2399C>A	XP_005252342.1:p.Pro800His
XM_011519136.1:c.2741C>A	XP_011517438.1:p.Pro914His
XM_011519137.1:c.2399C>A	XP_011517439.1:p.Pro800His
XR_929859.1:n.3119C>A
NM_001318360.1:c.2399C>A	NP_001305289.1:p.Pro800His
NM_001330749.1:c.1694C>A	NP_001317678.1:p.Pro565His
NM_003640.4:c.2741C>A	NP_003631.2:p.Pro914His
XM_011519136.2:c.2741C>A	XP_011517438.1:p.Pro914His
XR_929859.3:n.3130C>A
NM_003640.5:c.2741C>A MANE Select	NP_003631.2:p.Pro914His
NM_001318360.2:c.2399C>A	NP_001305289.1:p.Pro800His
NM_001330749.2:c.1694C>A	NP_001317678.1:p.Pro565His