Canonical Allele Identifier: CA374423136

Gene: ELP1

Linked Data

• gnomAD v4: 9-108899867-T-C
• MyVariant Identifiers: chr9:g.111662147T>C (hg19) ; chr9:g.108899867T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899867T>C , CM000671.2:g.108899867T>C	GRCh38
NC_000009.11:g.111662147T>C , CM000671.1:g.111662147T>C	GRCh37
NC_000009.10:g.110701968T>C	NCBI36
NG_008788.1:g.39462A>G , LRG_251:g.39462A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2159A>G MANE Select	ENSP00000363779.5:p.His720Arg
ENST00000495759.6:c.*769A>G	ENSP00000433514.2:n.*769A>G
ENST00000674535.1:c.2159A>G	ENSP00000502142.1:p.His720Arg
ENST00000674704.1:n.3966A>G
ENST00000674836.1:n.2464A>G
ENST00000674890.1:c.2159A>G	ENSP00000501870.1:p.His720Arg
ENST00000674938.1:c.1817A>G	ENSP00000502427.1:p.His606Arg
ENST00000674948.1:c.1817A>G	ENSP00000501602.1:p.His606Arg
ENST00000675052.1:c.2159A>G	ENSP00000502664.1:p.His720Arg
ENST00000675078.1:c.2159A>G	ENSP00000501549.1:p.His720Arg
ENST00000675215.1:c.*1383A>G	ENSP00000502558.1:n.*1383A>G
ENST00000675233.1:n.3986A>G
ENST00000675321.1:c.2159A>G	ENSP00000502751.1:p.His720Arg
ENST00000675325.1:n.3955A>G
ENST00000675335.1:c.2190A>G	ENSP00000502182.1:n.2190A>G
ENST00000675400.1:n.3832A>G
ENST00000675406.1:c.2159A>G	ENSP00000501893.1:p.His720Arg
ENST00000675458.1:c.2252A>G	ENSP00000501754.1:n.2252A>G
ENST00000675507.1:n.3955A>G
ENST00000675535.1:c.2159A>G	ENSP00000501667.1:p.His720Arg
ENST00000675566.1:n.3955A>G
ENST00000675602.1:n.5207A>G
ENST00000675647.1:n.2464A>G
ENST00000675711.1:c.2159A>G	ENSP00000502485.1:p.His720Arg
ENST00000675727.1:c.2159A>G	ENSP00000501722.1:p.His720Arg
ENST00000675748.1:n.3793A>G
ENST00000675765.1:c.2159A>G	ENSP00000502640.1:p.His720Arg
ENST00000675825.1:c.2159A>G	ENSP00000502632.1:p.His720Arg
ENST00000675877.1:n.2464A>G
ENST00000675893.1:c.*3228A>G	ENSP00000502001.1:n.*3228A>G
ENST00000675943.1:n.5774A>G
ENST00000675979.1:c.*1402A>G	ENSP00000502208.1:n.*1402A>G
ENST00000676044.1:c.2159A>G	ENSP00000502378.1:p.His720Arg
ENST00000676086.1:n.3944A>G
ENST00000676121.1:n.3987A>G
ENST00000676237.1:c.2060A>G	ENSP00000501828.1:p.His687Arg
ENST00000676416.1:c.1817A>G	ENSP00000501660.1:p.His606Arg
ENST00000676424.1:n.3955A>G
ENST00000676429.1:n.6628A>G
ENST00000374647.9:c.2159A>G	ENSP00000363779.5:p.His720Arg
ENST00000537196.1:c.1112A>G	ENSP00000439367.1:p.His371Arg
NM_003640.3:c.2159A>G , LRG_251t1:c.2159A>G	NP_003631.2:p.His720Arg
XM_005252285.2:c.1817A>G	XP_005252342.1:p.His606Arg
XM_011519136.1:c.2159A>G	XP_011517438.1:p.His720Arg
XM_011519137.1:c.1817A>G	XP_011517439.1:p.His606Arg
XR_929859.1:n.2475A>G
NM_001318360.1:c.1817A>G	NP_001305289.1:p.His606Arg
NM_001330749.1:c.1112A>G	NP_001317678.1:p.His371Arg
NM_003640.4:c.2159A>G	NP_003631.2:p.His720Arg
XM_011519136.2:c.2159A>G	XP_011517438.1:p.His720Arg
XR_929859.3:n.2486A>G
NM_003640.5:c.2159A>G MANE Select	NP_003631.2:p.His720Arg
NM_001318360.2:c.1817A>G	NP_001305289.1:p.His606Arg
NM_001330749.2:c.1112A>G	NP_001317678.1:p.His371Arg