Canonical Allele Identifier: CA466674320

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1084055
• ClinVar RCV Id: RCV001400926
• dbSNP Id: rs2131988616
• MyVariant Identifiers: chr9:g.111662600T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108900320T>C , CM000671.2:g.108900320T>C	GRCh38
NC_000009.11:g.111662600T>C , CM000671.1:g.111662600T>C	GRCh37
NC_000009.10:g.110702421T>C	NCBI36
NG_008788.1:g.39009A>G , LRG_251:g.39009A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2070A>G MANE Select	ENSP00000363779.5:p.Lys690=
ENST00000495759.6:c.*680A>G	ENSP00000433514.2:n.*680A>G
ENST00000674535.1:c.2070A>G	ENSP00000502142.1:p.Lys690=
ENST00000674704.1:n.3877A>G
ENST00000674836.1:n.2375A>G
ENST00000674890.1:c.2070A>G	ENSP00000501870.1:p.Lys690=
ENST00000674938.1:c.1728A>G	ENSP00000502427.1:p.Lys576=
ENST00000674948.1:c.1728A>G	ENSP00000501602.1:p.Lys576=
ENST00000675052.1:c.2070A>G	ENSP00000502664.1:p.Lys690=
ENST00000675078.1:c.2070A>G	ENSP00000501549.1:p.Lys690=
ENST00000675215.1:c.*1294A>G	ENSP00000502558.1:n.*1294A>G
ENST00000675233.1:n.3897A>G
ENST00000675321.1:c.2070A>G	ENSP00000502751.1:p.Lys690=
ENST00000675325.1:n.3866A>G
ENST00000675335.1:c.2101A>G	ENSP00000502182.1:n.2101A>G
ENST00000675400.1:n.3743A>G
ENST00000675406.1:c.2070A>G	ENSP00000501893.1:p.Lys690=
ENST00000675458.1:c.2163A>G	ENSP00000501754.1:n.2163A>G
ENST00000675507.1:n.3866A>G
ENST00000675535.1:c.2070A>G	ENSP00000501667.1:p.Lys690=
ENST00000675566.1:n.3866A>G
ENST00000675602.1:n.5118A>G
ENST00000675647.1:n.2375A>G
ENST00000675711.1:c.2070A>G	ENSP00000502485.1:p.Lys690=
ENST00000675727.1:c.2070A>G	ENSP00000501722.1:p.Lys690=
ENST00000675748.1:n.3704A>G
ENST00000675765.1:c.2070A>G	ENSP00000502640.1:p.Lys690=
ENST00000675825.1:c.2070A>G	ENSP00000502632.1:p.Lys690=
ENST00000675877.1:n.2375A>G
ENST00000675893.1:c.*3139A>G	ENSP00000502001.1:n.*3139A>G
ENST00000675943.1:n.5685A>G
ENST00000675979.1:c.*1313A>G	ENSP00000502208.1:n.*1313A>G
ENST00000676044.1:c.2070A>G	ENSP00000502378.1:p.Lys690=
ENST00000676086.1:n.3855A>G
ENST00000676121.1:n.3898A>G
ENST00000676237.1:c.1971A>G	ENSP00000501828.1:p.Lys657=
ENST00000676416.1:c.1728A>G	ENSP00000501660.1:p.Lys576=
ENST00000676424.1:n.3866A>G
ENST00000676429.1:n.6539A>G
ENST00000374647.9:c.2070A>G	ENSP00000363779.5:p.Lys690=
ENST00000537196.1:c.1023A>G	ENSP00000439367.1:p.Lys341=
NM_003640.3:c.2070A>G , LRG_251t1:c.2070A>G	NP_003631.2:p.Lys690=
XM_005252285.2:c.1728A>G	XP_005252342.1:p.Lys576=
XM_011519136.1:c.2070A>G	XP_011517438.1:p.Lys690=
XM_011519137.1:c.1728A>G	XP_011517439.1:p.Lys576=
XR_929859.1:n.2386A>G
NM_001318360.1:c.1728A>G	NP_001305289.1:p.Lys576=
NM_001330749.1:c.1023A>G	NP_001317678.1:p.Lys341=
NM_003640.4:c.2070A>G	NP_003631.2:p.Lys690=
XM_011519136.2:c.2070A>G	XP_011517438.1:p.Lys690=
XR_929859.3:n.2397A>G
NM_003640.5:c.2070A>G MANE Select	NP_003631.2:p.Lys690=
NM_001318360.2:c.1728A>G	NP_001305289.1:p.Lys576=
NM_001330749.2:c.1023A>G	NP_001317678.1:p.Lys341=