Canonical Allele Identifier: CA5174287

Gene: ELP1

Linked Data

• ClinVar Variation Id: 1002984
• ClinVar RCV Id: RCV001299480 ; RCV001830162 ; RCV002504448
• dbSNP Id: rs202165319
• ExAC: 9:111641837 T / C
• gnomAD v2: 9-111641837-T-C
• gnomAD v3: 9-108879557-T-C
• gnomAD v4: 9-108879557-T-C
• MyVariant Identifiers: chr9:g.111641837T>C (hg19) ; chr9:g.108879557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879557T>C , CM000671.2:g.108879557T>C	GRCh38
NC_000009.11:g.111641837T>C , CM000671.1:g.111641837T>C	GRCh37
NC_000009.10:g.110681658T>C	NCBI36
NG_008788.1:g.59772A>G , LRG_251:g.59772A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3461A>G MANE Select	ENSP00000363779.5:p.Asp1154Gly
ENST00000495759.6:c.*2071A>G	ENSP00000433514.2:n.*2071A>G
ENST00000674535.1:c.3461A>G	ENSP00000502142.1:p.Asp1154Gly
ENST00000674704.1:n.6546A>G
ENST00000674740.1:n.344A>G
ENST00000674836.1:n.4074A>G
ENST00000674890.1:c.*696A>G	ENSP00000501870.1:n.*696A>G
ENST00000674938.1:c.3119A>G	ENSP00000502427.1:p.Asp1040Gly
ENST00000674948.1:c.3119A>G	ENSP00000501602.1:p.Asp1040Gly
ENST00000675052.1:c.3461A>G	ENSP00000502664.1:p.Asp1154Gly
ENST00000675062.1:n.507A>G
ENST00000675078.1:c.3461A>G	ENSP00000501549.1:p.Asp1154Gly
ENST00000675215.1:c.*2685A>G	ENSP00000502558.1:n.*2685A>G
ENST00000675233.1:n.5288A>G
ENST00000675321.1:c.3460+495A>G	ENSP00000502751.1:n.3460+495A>G
ENST00000675325.1:n.5418A>G
ENST00000675335.1:c.3492A>G	ENSP00000502182.1:n.3492A>G
ENST00000675400.1:n.5313A>G
ENST00000675406.1:c.3461A>G	ENSP00000501893.1:p.Asp1154Gly
ENST00000675458.1:c.3554A>G	ENSP00000501754.1:n.3554A>G
ENST00000675507.1:n.5257A>G
ENST00000675535.1:c.*1088A>G	ENSP00000501667.1:n.*1088A>G
ENST00000675566.1:n.5319A>G
ENST00000675580.1:n.614A>G
ENST00000675602.1:n.6509A>G
ENST00000675647.1:n.4625A>G
ENST00000675711.1:c.3578A>G	ENSP00000502485.1:n.3578A>G
ENST00000675727.1:c.3461A>G	ENSP00000501722.1:p.Asp1154Gly
ENST00000675748.1:n.5095A>G
ENST00000675765.1:c.*844A>G	ENSP00000502640.1:n.*844A>G
ENST00000675825.1:c.3503A>G	ENSP00000502632.1:p.Asp1168Gly
ENST00000675877.1:n.5305A>G
ENST00000675893.1:c.*4530A>G	ENSP00000502001.1:n.*4530A>G
ENST00000675943.1:n.7076A>G
ENST00000675979.1:c.*2704A>G	ENSP00000502208.1:n.*2704A>G
ENST00000676044.1:c.*1121A>G	ENSP00000502378.1:n.*1121A>G
ENST00000676086.1:n.5246A>G
ENST00000676121.1:n.5289A>G
ENST00000676162.1:n.190A>G
ENST00000676237.1:c.3404A>G	ENSP00000501828.1:p.Asp1135Gly
ENST00000676416.1:c.3161A>G	ENSP00000501660.1:p.Asp1054Gly
ENST00000676424.1:n.5299A>G
ENST00000676429.1:n.7930A>G
ENST00000374647.9:c.3461A>G	ENSP00000363779.5:p.Asp1154Gly
ENST00000467959.1:n.341A>G
ENST00000495759.5:c.601A>G
ENST00000537196.1:c.2414A>G	ENSP00000439367.1:p.Asp805Gly
NM_003640.3:c.3461A>G , LRG_251t1:c.3461A>G	NP_003631.2:p.Asp1154Gly
XM_005252285.2:c.3119A>G	XP_005252342.1:p.Asp1040Gly
XM_011519136.1:c.3503A>G	XP_011517438.1:p.Asp1168Gly
XM_011519137.1:c.3161A>G	XP_011517439.1:p.Asp1054Gly
NM_001318360.1:c.3119A>G	NP_001305289.1:p.Asp1040Gly
NM_001330749.1:c.2414A>G	NP_001317678.1:p.Asp805Gly
NM_003640.4:c.3461A>G	NP_003631.2:p.Asp1154Gly
XM_011519136.2:c.3503A>G	XP_011517438.1:p.Asp1168Gly
XR_929859.3:n.3850A>G
NM_003640.5:c.3461A>G MANE Select	NP_003631.2:p.Asp1154Gly
NM_001318360.2:c.3119A>G	NP_001305289.1:p.Asp1040Gly
NM_001330749.2:c.2414A>G	NP_001317678.1:p.Asp805Gly