Canonical Allele Identifier: CA5174518

Gene: ELP1

Linked Data

• dbSNP Id: rs762459906
• ExAC: 9:111656224 A / G
• gnomAD v2: 9-111656224-A-G
• gnomAD v4: 9-108893944-A-G
• MyVariant Identifiers: chr9:g.111656224A>G (hg19) ; chr9:g.108893944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893944A>G , CM000671.2:g.108893944A>G	GRCh38
NC_000009.11:g.111656224A>G , CM000671.1:g.111656224A>G	GRCh37
NC_000009.10:g.110696045A>G	NCBI36
NG_008788.1:g.45385T>C , LRG_251:g.45385T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2859T>C MANE Select	ENSP00000363779.5:p.Cys953=
ENST00000495759.6:c.*1469T>C	ENSP00000433514.2:n.*1469T>C
ENST00000674535.1:c.2859T>C	ENSP00000502142.1:p.Cys953=
ENST00000674704.1:n.5944T>C
ENST00000674836.1:n.3472T>C
ENST00000674890.1:c.*94T>C	ENSP00000501870.1:n.*94T>C
ENST00000674938.1:c.2517T>C	ENSP00000502427.1:p.Cys839=
ENST00000674948.1:c.2517T>C	ENSP00000501602.1:p.Cys839=
ENST00000675052.1:c.2859T>C	ENSP00000502664.1:p.Cys953=
ENST00000675078.1:c.2859T>C	ENSP00000501549.1:p.Cys953=
ENST00000675215.1:c.*2083T>C	ENSP00000502558.1:n.*2083T>C
ENST00000675233.1:n.4686T>C
ENST00000675321.1:c.2859T>C	ENSP00000502751.1:p.Cys953=
ENST00000675325.1:n.4816T>C
ENST00000675335.1:c.2890T>C	ENSP00000502182.1:n.2890T>C
ENST00000675400.1:n.4594T>C
ENST00000675406.1:c.2859T>C	ENSP00000501893.1:p.Cys953=
ENST00000675458.1:c.2952T>C	ENSP00000501754.1:n.2952T>C
ENST00000675507.1:n.4655T>C
ENST00000675535.1:c.*486T>C	ENSP00000501667.1:n.*486T>C
ENST00000675566.1:n.4717T>C
ENST00000675602.1:n.5907T>C
ENST00000675647.1:n.3164T>C
ENST00000675711.1:c.2859T>C	ENSP00000502485.1:p.Cys953=
ENST00000675727.1:c.2859T>C	ENSP00000501722.1:p.Cys953=
ENST00000675748.1:n.4493T>C
ENST00000675765.1:c.*242T>C	ENSP00000502640.1:n.*242T>C
ENST00000675825.1:c.2859T>C	ENSP00000502632.1:p.Cys953=
ENST00000675877.1:n.3164T>C
ENST00000675893.1:c.*3928T>C	ENSP00000502001.1:n.*3928T>C
ENST00000675943.1:n.6474T>C
ENST00000675979.1:c.*2102T>C	ENSP00000502208.1:n.*2102T>C
ENST00000676044.1:c.*519T>C	ENSP00000502378.1:n.*519T>C
ENST00000676086.1:n.4644T>C
ENST00000676121.1:n.4687T>C
ENST00000676237.1:c.2760T>C	ENSP00000501828.1:p.Cys920=
ENST00000676416.1:c.2517T>C	ENSP00000501660.1:p.Cys839=
ENST00000676424.1:n.4655T>C
ENST00000676429.1:n.7328T>C
ENST00000374647.9:c.2859T>C	ENSP00000363779.5:p.Cys953=
ENST00000537196.1:c.1812T>C	ENSP00000439367.1:p.Cys604=
NM_003640.3:c.2859T>C , LRG_251t1:c.2859T>C	NP_003631.2:p.Cys953=
XM_005252285.2:c.2517T>C	XP_005252342.1:p.Cys839=
XM_011519136.1:c.2859T>C	XP_011517438.1:p.Cys953=
XM_011519137.1:c.2517T>C	XP_011517439.1:p.Cys839=
XR_929859.1:n.3237T>C
NM_001318360.1:c.2517T>C	NP_001305289.1:p.Cys839=
NM_001330749.1:c.1812T>C	NP_001317678.1:p.Cys604=
NM_003640.4:c.2859T>C	NP_003631.2:p.Cys953=
XM_011519136.2:c.2859T>C	XP_011517438.1:p.Cys953=
XR_929859.3:n.3248T>C
NM_003640.5:c.2859T>C MANE Select	NP_003631.2:p.Cys953=
NM_001318360.2:c.2517T>C	NP_001305289.1:p.Cys839=
NM_001330749.2:c.1812T>C	NP_001317678.1:p.Cys604=