Canonical Allele Identifier: CA374414897

Gene: ELP1

Linked Data

• gnomAD v4: 9-108889357-G-T
• MyVariant Identifiers: chr9:g.111651637G>T (hg19) ; chr9:g.108889357G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889357G>T , CM000671.2:g.108889357G>T	GRCh38
NC_000009.11:g.111651637G>T , CM000671.1:g.111651637G>T	GRCh37
NC_000009.10:g.110691458G>T	NCBI36
NG_008788.1:g.49972C>A , LRG_251:g.49972C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3197C>A MANE Select	ENSP00000363779.5:p.Ala1066Asp
ENST00000495759.6:c.*1807C>A	ENSP00000433514.2:n.*1807C>A
ENST00000674535.1:c.3197C>A	ENSP00000502142.1:p.Ala1066Asp
ENST00000674704.1:n.6282C>A
ENST00000674836.1:n.3810C>A
ENST00000674890.1:c.*432C>A	ENSP00000501870.1:n.*432C>A
ENST00000674938.1:c.2855C>A	ENSP00000502427.1:p.Ala952Asp
ENST00000674948.1:c.2855C>A	ENSP00000501602.1:p.Ala952Asp
ENST00000675052.1:c.3197C>A	ENSP00000502664.1:p.Ala1066Asp
ENST00000675078.1:c.3197C>A	ENSP00000501549.1:p.Ala1066Asp
ENST00000675215.1:c.*2421C>A	ENSP00000502558.1:n.*2421C>A
ENST00000675233.1:n.5024C>A
ENST00000675321.1:c.3197C>A	ENSP00000502751.1:p.Ala1066Asp
ENST00000675325.1:n.5154C>A
ENST00000675335.1:c.3228C>A	ENSP00000502182.1:n.3228C>A
ENST00000675400.1:n.4932C>A
ENST00000675406.1:c.3197C>A	ENSP00000501893.1:p.Ala1066Asp
ENST00000675458.1:c.3290C>A	ENSP00000501754.1:n.3290C>A
ENST00000675507.1:n.4993C>A
ENST00000675535.1:c.*824C>A	ENSP00000501667.1:n.*824C>A
ENST00000675566.1:n.5055C>A
ENST00000675602.1:n.6245C>A
ENST00000675647.1:n.4361C>A
ENST00000675711.1:c.3197C>A	ENSP00000502485.1:p.Ala1066Asp
ENST00000675727.1:c.3197C>A	ENSP00000501722.1:p.Ala1066Asp
ENST00000675748.1:n.4831C>A
ENST00000675765.1:c.*580C>A	ENSP00000502640.1:n.*580C>A
ENST00000675825.1:c.3197C>A	ENSP00000502632.1:p.Ala1066Asp
ENST00000675877.1:n.3502C>A
ENST00000675893.1:c.*4266C>A	ENSP00000502001.1:n.*4266C>A
ENST00000675943.1:n.6812C>A
ENST00000675979.1:c.*2440C>A	ENSP00000502208.1:n.*2440C>A
ENST00000676044.1:c.*857C>A	ENSP00000502378.1:n.*857C>A
ENST00000676086.1:n.4982C>A
ENST00000676121.1:n.5025C>A
ENST00000676237.1:c.3098C>A	ENSP00000501828.1:p.Ala1033Asp
ENST00000676416.1:c.2855C>A	ENSP00000501660.1:p.Ala952Asp
ENST00000676424.1:n.4993C>A
ENST00000676429.1:n.7666C>A
ENST00000374647.9:c.3197C>A	ENSP00000363779.5:p.Ala1066Asp
ENST00000467959.1:n.77C>A
ENST00000495759.5:c.337C>A
ENST00000537196.1:c.2150C>A	ENSP00000439367.1:p.Ala717Asp
NM_003640.3:c.3197C>A , LRG_251t1:c.3197C>A	NP_003631.2:p.Ala1066Asp
XM_005252285.2:c.2855C>A	XP_005252342.1:p.Ala952Asp
XM_011519136.1:c.3197C>A	XP_011517438.1:p.Ala1066Asp
XM_011519137.1:c.2855C>A	XP_011517439.1:p.Ala952Asp
NM_001318360.1:c.2855C>A	NP_001305289.1:p.Ala952Asp
NM_001330749.1:c.2150C>A	NP_001317678.1:p.Ala717Asp
NM_003640.4:c.3197C>A	NP_003631.2:p.Ala1066Asp
XM_011519136.2:c.3197C>A	XP_011517438.1:p.Ala1066Asp
XR_929859.3:n.3586C>A
NM_003640.5:c.3197C>A MANE Select	NP_003631.2:p.Ala1066Asp
NM_001318360.2:c.2855C>A	NP_001305289.1:p.Ala952Asp
NM_001330749.2:c.2150C>A	NP_001317678.1:p.Ala717Asp