Canonical Allele Identifier: CA5174749

Gene: ELP1

Linked Data

• ClinVar Variation Id: 2150229
• ClinVar RCV Id: RCV003067462 ; RCV003274200
• dbSNP Id: rs375967301
• ExAC: 9:111662118 G / A
• gnomAD v2: 9-111662118-G-A
• gnomAD v3: 9-108899838-G-A
• gnomAD v4: 9-108899838-G-A
• MyVariant Identifiers: chr9:g.111662118G>A (hg19) ; chr9:g.108899838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899838G>A , CM000671.2:g.108899838G>A	GRCh38
NC_000009.11:g.111662118G>A , CM000671.1:g.111662118G>A	GRCh37
NC_000009.10:g.110701939G>A	NCBI36
NG_008788.1:g.39491C>T , LRG_251:g.39491C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2188C>T MANE Select	ENSP00000363779.5:p.Arg730Trp
ENST00000495759.6:c.*798C>T	ENSP00000433514.2:n.*798C>T
ENST00000674535.1:c.2188C>T	ENSP00000502142.1:p.Arg730Trp
ENST00000674704.1:n.3995C>T
ENST00000674836.1:n.2493C>T
ENST00000674890.1:c.2188C>T	ENSP00000501870.1:p.Arg730Trp
ENST00000674938.1:c.1846C>T	ENSP00000502427.1:p.Arg616Trp
ENST00000674948.1:c.1846C>T	ENSP00000501602.1:p.Arg616Trp
ENST00000675052.1:c.2188C>T	ENSP00000502664.1:p.Arg730Trp
ENST00000675078.1:c.2188C>T	ENSP00000501549.1:p.Arg730Trp
ENST00000675215.1:c.*1412C>T	ENSP00000502558.1:n.*1412C>T
ENST00000675233.1:n.4015C>T
ENST00000675321.1:c.2188C>T	ENSP00000502751.1:p.Arg730Trp
ENST00000675325.1:n.3984C>T
ENST00000675335.1:c.2219C>T	ENSP00000502182.1:n.2219C>T
ENST00000675400.1:n.3861C>T
ENST00000675406.1:c.2188C>T	ENSP00000501893.1:p.Arg730Trp
ENST00000675458.1:c.2281C>T	ENSP00000501754.1:n.2281C>T
ENST00000675507.1:n.3984C>T
ENST00000675535.1:c.2188C>T	ENSP00000501667.1:p.Arg730Trp
ENST00000675566.1:n.3984C>T
ENST00000675602.1:n.5236C>T
ENST00000675647.1:n.2493C>T
ENST00000675711.1:c.2188C>T	ENSP00000502485.1:p.Arg730Trp
ENST00000675727.1:c.2188C>T	ENSP00000501722.1:p.Arg730Trp
ENST00000675748.1:n.3822C>T
ENST00000675765.1:c.2188C>T	ENSP00000502640.1:p.Arg730Trp
ENST00000675825.1:c.2188C>T	ENSP00000502632.1:p.Arg730Trp
ENST00000675877.1:n.2493C>T
ENST00000675893.1:c.*3257C>T	ENSP00000502001.1:n.*3257C>T
ENST00000675943.1:n.5803C>T
ENST00000675979.1:c.*1431C>T	ENSP00000502208.1:n.*1431C>T
ENST00000676044.1:c.2188C>T	ENSP00000502378.1:p.Arg730Trp
ENST00000676086.1:n.3973C>T
ENST00000676121.1:n.4016C>T
ENST00000676237.1:c.2089C>T	ENSP00000501828.1:p.Arg697Trp
ENST00000676416.1:c.1846C>T	ENSP00000501660.1:p.Arg616Trp
ENST00000676424.1:n.3984C>T
ENST00000676429.1:n.6657C>T
ENST00000374647.9:c.2188C>T	ENSP00000363779.5:p.Arg730Trp
ENST00000537196.1:c.1141C>T	ENSP00000439367.1:p.Arg381Trp
NM_003640.3:c.2188C>T , LRG_251t1:c.2188C>T	NP_003631.2:p.Arg730Trp
XM_005252285.2:c.1846C>T	XP_005252342.1:p.Arg616Trp
XM_011519136.1:c.2188C>T	XP_011517438.1:p.Arg730Trp
XM_011519137.1:c.1846C>T	XP_011517439.1:p.Arg616Trp
XR_929859.1:n.2504C>T
NM_001318360.1:c.1846C>T	NP_001305289.1:p.Arg616Trp
NM_001330749.1:c.1141C>T	NP_001317678.1:p.Arg381Trp
NM_003640.4:c.2188C>T	NP_003631.2:p.Arg730Trp
XM_011519136.2:c.2188C>T	XP_011517438.1:p.Arg730Trp
XR_929859.3:n.2515C>T
NM_003640.5:c.2188C>T MANE Select	NP_003631.2:p.Arg730Trp
NM_001318360.2:c.1846C>T	NP_001305289.1:p.Arg616Trp
NM_001330749.2:c.1141C>T	NP_001317678.1:p.Arg381Trp