Canonical Allele Identifier: CA5174264

Gene: ELP1

Linked Data

• dbSNP Id: rs780202201
• ExAC: 9:111641727 C / T
• gnomAD v2: 9-111641727-C-T
• gnomAD v4: 9-108879447-C-T
• MyVariant Identifiers: chr9:g.111641727C>T (hg19) ; chr9:g.108879447C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879447C>T , CM000671.2:g.108879447C>T	GRCh38
NC_000009.11:g.111641727C>T , CM000671.1:g.111641727C>T	GRCh37
NC_000009.10:g.110681548C>T	NCBI36
NG_008788.1:g.59882G>A , LRG_251:g.59882G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3571G>A MANE Select	ENSP00000363779.5:p.Ala1191Thr
ENST00000495759.6:c.*2181G>A	ENSP00000433514.2:n.*2181G>A
ENST00000674535.1:c.3571G>A	ENSP00000502142.1:p.Ala1191Thr
ENST00000674704.1:n.6656G>A
ENST00000674740.1:n.454G>A
ENST00000674836.1:n.4184G>A
ENST00000674890.1:c.*806G>A	ENSP00000501870.1:n.*806G>A
ENST00000674938.1:c.3229G>A	ENSP00000502427.1:p.Ala1077Thr
ENST00000674948.1:c.3229G>A	ENSP00000501602.1:p.Ala1077Thr
ENST00000675052.1:c.3571G>A	ENSP00000502664.1:p.Ala1191Thr
ENST00000675062.1:n.617G>A
ENST00000675078.1:c.3571G>A	ENSP00000501549.1:p.Ala1191Thr
ENST00000675215.1:c.*2795G>A	ENSP00000502558.1:n.*2795G>A
ENST00000675233.1:n.5398G>A
ENST00000675321.1:c.3460+605G>A	ENSP00000502751.1:n.3460+605G>A
ENST00000675325.1:n.5528G>A
ENST00000675335.1:c.3602G>A	ENSP00000502182.1:n.3602G>A
ENST00000675400.1:n.5423G>A
ENST00000675406.1:c.3571G>A	ENSP00000501893.1:p.Ala1191Thr
ENST00000675458.1:c.3664G>A	ENSP00000501754.1:n.3664G>A
ENST00000675507.1:n.5367G>A
ENST00000675535.1:c.*1198G>A	ENSP00000501667.1:n.*1198G>A
ENST00000675566.1:n.5429G>A
ENST00000675580.1:n.724G>A
ENST00000675602.1:n.6619G>A
ENST00000675647.1:n.4735G>A
ENST00000675711.1:c.3688G>A	ENSP00000502485.1:n.3688G>A
ENST00000675727.1:c.3571G>A	ENSP00000501722.1:p.Ala1191Thr
ENST00000675748.1:n.5205G>A
ENST00000675765.1:c.*954G>A	ENSP00000502640.1:n.*954G>A
ENST00000675825.1:c.3613G>A	ENSP00000502632.1:p.Ala1205Thr
ENST00000675877.1:n.5415G>A
ENST00000675893.1:c.*4640G>A	ENSP00000502001.1:n.*4640G>A
ENST00000675943.1:n.7186G>A
ENST00000675979.1:c.*2814G>A	ENSP00000502208.1:n.*2814G>A
ENST00000676044.1:c.*1231G>A	ENSP00000502378.1:n.*1231G>A
ENST00000676086.1:n.5356G>A
ENST00000676121.1:n.5399G>A
ENST00000676162.1:n.300G>A
ENST00000676237.1:c.3514G>A	ENSP00000501828.1:p.Ala1172Thr
ENST00000676416.1:c.3271G>A	ENSP00000501660.1:p.Ala1091Thr
ENST00000676424.1:n.5409G>A
ENST00000676429.1:n.8040G>A
ENST00000374647.9:c.3571G>A	ENSP00000363779.5:p.Ala1191Thr
ENST00000495759.5:c.711G>A
ENST00000537196.1:c.2524G>A	ENSP00000439367.1:p.Ala842Thr
NM_003640.3:c.3571G>A , LRG_251t1:c.3571G>A	NP_003631.2:p.Ala1191Thr
XM_005252285.2:c.3229G>A	XP_005252342.1:p.Ala1077Thr
XM_011519136.1:c.3613G>A	XP_011517438.1:p.Ala1205Thr
XM_011519137.1:c.3271G>A	XP_011517439.1:p.Ala1091Thr
NM_001318360.1:c.3229G>A	NP_001305289.1:p.Ala1077Thr
NM_001330749.1:c.2524G>A	NP_001317678.1:p.Ala842Thr
NM_003640.4:c.3571G>A	NP_003631.2:p.Ala1191Thr
XM_011519136.2:c.3613G>A	XP_011517438.1:p.Ala1205Thr
XR_929859.3:n.3960G>A
NM_003640.5:c.3571G>A MANE Select	NP_003631.2:p.Ala1191Thr
NM_001318360.2:c.3229G>A	NP_001305289.1:p.Ala1077Thr
NM_001330749.2:c.2524G>A	NP_001317678.1:p.Ala842Thr