Canonical Allele Identifier: CA5174538

Gene: ELP1

Linked Data

• ClinVar Variation Id: 655332
• ClinVar RCV Id: RCV000811480 ; RCV001274113 ; RCV002501105
• dbSNP Id: rs763312635
• ExAC: 9:111656286 G / A
• gnomAD v2: 9-111656286-G-A
• gnomAD v3: 9-108894006-G-A
• gnomAD v4: 9-108894006-G-A
• COSMIC: COSM1459192
• MyVariant Identifiers: chr9:g.111656286G>A (hg19) ; chr9:g.108894006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108894006G>A , CM000671.2:g.108894006G>A	GRCh38
NC_000009.11:g.111656286G>A , CM000671.1:g.111656286G>A	GRCh37
NC_000009.10:g.110696107G>A	NCBI36
NG_008788.1:g.45323C>T , LRG_251:g.45323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2797C>T MANE Select	ENSP00000363779.5:p.Arg933Trp
ENST00000495759.6:c.*1407C>T	ENSP00000433514.2:n.*1407C>T
ENST00000674535.1:c.2797C>T	ENSP00000502142.1:p.Arg933Trp
ENST00000674704.1:n.5882C>T
ENST00000674836.1:n.3410C>T
ENST00000674890.1:c.*32C>T	ENSP00000501870.1:n.*32C>T
ENST00000674938.1:c.2455C>T	ENSP00000502427.1:p.Arg819Trp
ENST00000674948.1:c.2455C>T	ENSP00000501602.1:p.Arg819Trp
ENST00000675052.1:c.2797C>T	ENSP00000502664.1:p.Arg933Trp
ENST00000675078.1:c.2797C>T	ENSP00000501549.1:p.Arg933Trp
ENST00000675215.1:c.*2021C>T	ENSP00000502558.1:n.*2021C>T
ENST00000675233.1:n.4624C>T
ENST00000675321.1:c.2797C>T	ENSP00000502751.1:p.Arg933Trp
ENST00000675325.1:n.4754C>T
ENST00000675335.1:c.2828C>T	ENSP00000502182.1:n.2828C>T
ENST00000675400.1:n.4532C>T
ENST00000675406.1:c.2797C>T	ENSP00000501893.1:p.Arg933Trp
ENST00000675458.1:c.2890C>T	ENSP00000501754.1:n.2890C>T
ENST00000675507.1:n.4593C>T
ENST00000675535.1:c.*424C>T	ENSP00000501667.1:n.*424C>T
ENST00000675566.1:n.4655C>T
ENST00000675602.1:n.5845C>T
ENST00000675647.1:n.3102C>T
ENST00000675711.1:c.2797C>T	ENSP00000502485.1:p.Arg933Trp
ENST00000675727.1:c.2797C>T	ENSP00000501722.1:p.Arg933Trp
ENST00000675748.1:n.4431C>T
ENST00000675765.1:c.*180C>T	ENSP00000502640.1:n.*180C>T
ENST00000675825.1:c.2797C>T	ENSP00000502632.1:p.Arg933Trp
ENST00000675877.1:n.3102C>T
ENST00000675893.1:c.*3866C>T	ENSP00000502001.1:n.*3866C>T
ENST00000675943.1:n.6412C>T
ENST00000675979.1:c.*2040C>T	ENSP00000502208.1:n.*2040C>T
ENST00000676044.1:c.*457C>T	ENSP00000502378.1:n.*457C>T
ENST00000676086.1:n.4582C>T
ENST00000676121.1:n.4625C>T
ENST00000676237.1:c.2698C>T	ENSP00000501828.1:p.Arg900Trp
ENST00000676416.1:c.2455C>T	ENSP00000501660.1:p.Arg819Trp
ENST00000676424.1:n.4593C>T
ENST00000676429.1:n.7266C>T
ENST00000374647.9:c.2797C>T	ENSP00000363779.5:p.Arg933Trp
ENST00000537196.1:c.1750C>T	ENSP00000439367.1:p.Arg584Trp
NM_003640.3:c.2797C>T , LRG_251t1:c.2797C>T	NP_003631.2:p.Arg933Trp
XM_005252285.2:c.2455C>T	XP_005252342.1:p.Arg819Trp
XM_011519136.1:c.2797C>T	XP_011517438.1:p.Arg933Trp
XM_011519137.1:c.2455C>T	XP_011517439.1:p.Arg819Trp
XR_929859.1:n.3175C>T
NM_001318360.1:c.2455C>T	NP_001305289.1:p.Arg819Trp
NM_001330749.1:c.1750C>T	NP_001317678.1:p.Arg584Trp
NM_003640.4:c.2797C>T	NP_003631.2:p.Arg933Trp
XM_011519136.2:c.2797C>T	XP_011517438.1:p.Arg933Trp
XR_929859.3:n.3186C>T
NM_003640.5:c.2797C>T MANE Select	NP_003631.2:p.Arg933Trp
NM_001318360.2:c.2455C>T	NP_001305289.1:p.Arg819Trp
NM_001330749.2:c.1750C>T	NP_001317678.1:p.Arg584Trp