Canonical Allele Identifier: CA374418888

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111656273T>A (hg19) ; chr9:g.108893993T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893993T>A , CM000671.2:g.108893993T>A	GRCh38
NC_000009.11:g.111656273T>A , CM000671.1:g.111656273T>A	GRCh37
NC_000009.10:g.110696094T>A	NCBI36
NG_008788.1:g.45336A>T , LRG_251:g.45336A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2810A>T MANE Select	ENSP00000363779.5:p.Asp937Val
ENST00000495759.6:c.*1420A>T	ENSP00000433514.2:n.*1420A>T
ENST00000674535.1:c.2810A>T	ENSP00000502142.1:p.Asp937Val
ENST00000674704.1:n.5895A>T
ENST00000674836.1:n.3423A>T
ENST00000674890.1:c.*45A>T	ENSP00000501870.1:n.*45A>T
ENST00000674938.1:c.2468A>T	ENSP00000502427.1:p.Asp823Val
ENST00000674948.1:c.2468A>T	ENSP00000501602.1:p.Asp823Val
ENST00000675052.1:c.2810A>T	ENSP00000502664.1:p.Asp937Val
ENST00000675078.1:c.2810A>T	ENSP00000501549.1:p.Asp937Val
ENST00000675215.1:c.*2034A>T	ENSP00000502558.1:n.*2034A>T
ENST00000675233.1:n.4637A>T
ENST00000675321.1:c.2810A>T	ENSP00000502751.1:p.Asp937Val
ENST00000675325.1:n.4767A>T
ENST00000675335.1:c.2841A>T	ENSP00000502182.1:n.2841A>T
ENST00000675400.1:n.4545A>T
ENST00000675406.1:c.2810A>T	ENSP00000501893.1:p.Asp937Val
ENST00000675458.1:c.2903A>T	ENSP00000501754.1:n.2903A>T
ENST00000675507.1:n.4606A>T
ENST00000675535.1:c.*437A>T	ENSP00000501667.1:n.*437A>T
ENST00000675566.1:n.4668A>T
ENST00000675602.1:n.5858A>T
ENST00000675647.1:n.3115A>T
ENST00000675711.1:c.2810A>T	ENSP00000502485.1:p.Asp937Val
ENST00000675727.1:c.2810A>T	ENSP00000501722.1:p.Asp937Val
ENST00000675748.1:n.4444A>T
ENST00000675765.1:c.*193A>T	ENSP00000502640.1:n.*193A>T
ENST00000675825.1:c.2810A>T	ENSP00000502632.1:p.Asp937Val
ENST00000675877.1:n.3115A>T
ENST00000675893.1:c.*3879A>T	ENSP00000502001.1:n.*3879A>T
ENST00000675943.1:n.6425A>T
ENST00000675979.1:c.*2053A>T	ENSP00000502208.1:n.*2053A>T
ENST00000676044.1:c.*470A>T	ENSP00000502378.1:n.*470A>T
ENST00000676086.1:n.4595A>T
ENST00000676121.1:n.4638A>T
ENST00000676237.1:c.2711A>T	ENSP00000501828.1:p.Asp904Val
ENST00000676416.1:c.2468A>T	ENSP00000501660.1:p.Asp823Val
ENST00000676424.1:n.4606A>T
ENST00000676429.1:n.7279A>T
ENST00000374647.9:c.2810A>T	ENSP00000363779.5:p.Asp937Val
ENST00000537196.1:c.1763A>T	ENSP00000439367.1:p.Asp588Val
NM_003640.3:c.2810A>T , LRG_251t1:c.2810A>T	NP_003631.2:p.Asp937Val
XM_005252285.2:c.2468A>T	XP_005252342.1:p.Asp823Val
XM_011519136.1:c.2810A>T	XP_011517438.1:p.Asp937Val
XM_011519137.1:c.2468A>T	XP_011517439.1:p.Asp823Val
XR_929859.1:n.3188A>T
NM_001318360.1:c.2468A>T	NP_001305289.1:p.Asp823Val
NM_001330749.1:c.1763A>T	NP_001317678.1:p.Asp588Val
NM_003640.4:c.2810A>T	NP_003631.2:p.Asp937Val
XM_011519136.2:c.2810A>T	XP_011517438.1:p.Asp937Val
XR_929859.3:n.3199A>T
NM_003640.5:c.2810A>T MANE Select	NP_003631.2:p.Asp937Val
NM_001318360.2:c.2468A>T	NP_001305289.1:p.Asp823Val
NM_001330749.2:c.1763A>T	NP_001317678.1:p.Asp588Val