Canonical Allele Identifier: CA5174279

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879526G>A , CM000671.2:g.108879526G>A	GRCh38
NC_000009.11:g.111641806G>A , CM000671.1:g.111641806G>A	GRCh37
NC_000009.10:g.110681627G>A	NCBI36
NG_008788.1:g.59803C>T , LRG_251:g.59803C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3492C>T MANE Select	ENSP00000363779.5:p.Asp1164=
ENST00000495759.6:c.*2102C>T	ENSP00000433514.2:n.*2102C>T
ENST00000674535.1:c.3492C>T	ENSP00000502142.1:p.Asp1164=
ENST00000674704.1:n.6577C>T
ENST00000674740.1:n.375C>T
ENST00000674836.1:n.4105C>T
ENST00000674890.1:c.*727C>T	ENSP00000501870.1:n.*727C>T
ENST00000674938.1:c.3150C>T	ENSP00000502427.1:p.Asp1050=
ENST00000674948.1:c.3150C>T	ENSP00000501602.1:p.Asp1050=
ENST00000675052.1:c.3492C>T	ENSP00000502664.1:p.Asp1164=
ENST00000675062.1:n.538C>T
ENST00000675078.1:c.3492C>T	ENSP00000501549.1:p.Asp1164=
ENST00000675215.1:c.*2716C>T	ENSP00000502558.1:n.*2716C>T
ENST00000675233.1:n.5319C>T
ENST00000675321.1:c.3460+526C>T	ENSP00000502751.1:n.3460+526C>T
ENST00000675325.1:n.5449C>T
ENST00000675335.1:c.3523C>T	ENSP00000502182.1:n.3523C>T
ENST00000675400.1:n.5344C>T
ENST00000675406.1:c.3492C>T	ENSP00000501893.1:p.Asp1164=
ENST00000675458.1:c.3585C>T	ENSP00000501754.1:n.3585C>T
ENST00000675507.1:n.5288C>T
ENST00000675535.1:c.*1119C>T	ENSP00000501667.1:n.*1119C>T
ENST00000675566.1:n.5350C>T
ENST00000675580.1:n.645C>T
ENST00000675602.1:n.6540C>T
ENST00000675647.1:n.4656C>T
ENST00000675711.1:c.3609C>T	ENSP00000502485.1:n.3609C>T
ENST00000675727.1:c.3492C>T	ENSP00000501722.1:p.Asp1164=
ENST00000675748.1:n.5126C>T
ENST00000675765.1:c.*875C>T	ENSP00000502640.1:n.*875C>T
ENST00000675825.1:c.3534C>T	ENSP00000502632.1:p.Asp1178=
ENST00000675877.1:n.5336C>T
ENST00000675893.1:c.*4561C>T	ENSP00000502001.1:n.*4561C>T
ENST00000675943.1:n.7107C>T
ENST00000675979.1:c.*2735C>T	ENSP00000502208.1:n.*2735C>T
ENST00000676044.1:c.*1152C>T	ENSP00000502378.1:n.*1152C>T
ENST00000676086.1:n.5277C>T
ENST00000676121.1:n.5320C>T
ENST00000676162.1:n.221C>T
ENST00000676237.1:c.3435C>T	ENSP00000501828.1:p.Asp1145=
ENST00000676416.1:c.3192C>T	ENSP00000501660.1:p.Asp1064=
ENST00000676424.1:n.5330C>T
ENST00000676429.1:n.7961C>T
ENST00000374647.9:c.3492C>T	ENSP00000363779.5:p.Asp1164=
ENST00000467959.1:n.372C>T
ENST00000495759.5:c.632C>T
ENST00000537196.1:c.2445C>T	ENSP00000439367.1:p.Asp815=
NM_003640.3:c.3492C>T , LRG_251t1:c.3492C>T	NP_003631.2:p.Asp1164=
XM_005252285.2:c.3150C>T	XP_005252342.1:p.Asp1050=
XM_011519136.1:c.3534C>T	XP_011517438.1:p.Asp1178=
XM_011519137.1:c.3192C>T	XP_011517439.1:p.Asp1064=
NM_001318360.1:c.3150C>T	NP_001305289.1:p.Asp1050=
NM_001330749.1:c.2445C>T	NP_001317678.1:p.Asp815=
NM_003640.4:c.3492C>T	NP_003631.2:p.Asp1164=
XM_011519136.2:c.3534C>T	XP_011517438.1:p.Asp1178=
XR_929859.3:n.3881C>T
NM_003640.5:c.3492C>T MANE Select	NP_003631.2:p.Asp1164=
NM_001318360.2:c.3150C>T	NP_001305289.1:p.Asp1050=
NM_001330749.2:c.2445C>T	NP_001317678.1:p.Asp815=