Canonical Allele Identifier: CA374411993

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641832C>A (hg19) ; chr9:g.108879552C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879552C>A , CM000671.2:g.108879552C>A	GRCh38
NC_000009.11:g.111641832C>A , CM000671.1:g.111641832C>A	GRCh37
NC_000009.10:g.110681653C>A	NCBI36
NG_008788.1:g.59777G>T , LRG_251:g.59777G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3466G>T MANE Select	ENSP00000363779.5:p.Glu1156Ter
ENST00000495759.6:c.*2076G>T	ENSP00000433514.2:n.*2076G>T
ENST00000674535.1:c.3466G>T	ENSP00000502142.1:p.Glu1156Ter
ENST00000674704.1:n.6551G>T
ENST00000674740.1:n.349G>T
ENST00000674836.1:n.4079G>T
ENST00000674890.1:c.*701G>T	ENSP00000501870.1:n.*701G>T
ENST00000674938.1:c.3124G>T	ENSP00000502427.1:p.Glu1042Ter
ENST00000674948.1:c.3124G>T	ENSP00000501602.1:p.Glu1042Ter
ENST00000675052.1:c.3466G>T	ENSP00000502664.1:p.Glu1156Ter
ENST00000675062.1:n.512G>T
ENST00000675078.1:c.3466G>T	ENSP00000501549.1:p.Glu1156Ter
ENST00000675215.1:c.*2690G>T	ENSP00000502558.1:n.*2690G>T
ENST00000675233.1:n.5293G>T
ENST00000675321.1:c.3460+500G>T	ENSP00000502751.1:n.3460+500G>T
ENST00000675325.1:n.5423G>T
ENST00000675335.1:c.3497G>T	ENSP00000502182.1:n.3497G>T
ENST00000675400.1:n.5318G>T
ENST00000675406.1:c.3466G>T	ENSP00000501893.1:p.Glu1156Ter
ENST00000675458.1:c.3559G>T	ENSP00000501754.1:n.3559G>T
ENST00000675507.1:n.5262G>T
ENST00000675535.1:c.*1093G>T	ENSP00000501667.1:n.*1093G>T
ENST00000675566.1:n.5324G>T
ENST00000675580.1:n.619G>T
ENST00000675602.1:n.6514G>T
ENST00000675647.1:n.4630G>T
ENST00000675711.1:c.3583G>T	ENSP00000502485.1:n.3583G>T
ENST00000675727.1:c.3466G>T	ENSP00000501722.1:p.Glu1156Ter
ENST00000675748.1:n.5100G>T
ENST00000675765.1:c.*849G>T	ENSP00000502640.1:n.*849G>T
ENST00000675825.1:c.3508G>T	ENSP00000502632.1:p.Glu1170Ter
ENST00000675877.1:n.5310G>T
ENST00000675893.1:c.*4535G>T	ENSP00000502001.1:n.*4535G>T
ENST00000675943.1:n.7081G>T
ENST00000675979.1:c.*2709G>T	ENSP00000502208.1:n.*2709G>T
ENST00000676044.1:c.*1126G>T	ENSP00000502378.1:n.*1126G>T
ENST00000676086.1:n.5251G>T
ENST00000676121.1:n.5294G>T
ENST00000676162.1:n.195G>T
ENST00000676237.1:c.3409G>T	ENSP00000501828.1:p.Glu1137Ter
ENST00000676416.1:c.3166G>T	ENSP00000501660.1:p.Glu1056Ter
ENST00000676424.1:n.5304G>T
ENST00000676429.1:n.7935G>T
ENST00000374647.9:c.3466G>T	ENSP00000363779.5:p.Glu1156Ter
ENST00000467959.1:n.346G>T
ENST00000495759.5:c.606G>T
ENST00000537196.1:c.2419G>T	ENSP00000439367.1:p.Glu807Ter
NM_003640.3:c.3466G>T , LRG_251t1:c.3466G>T	NP_003631.2:p.Glu1156Ter
XM_005252285.2:c.3124G>T	XP_005252342.1:p.Glu1042Ter
XM_011519136.1:c.3508G>T	XP_011517438.1:p.Glu1170Ter
XM_011519137.1:c.3166G>T	XP_011517439.1:p.Glu1056Ter
NM_001318360.1:c.3124G>T	NP_001305289.1:p.Glu1042Ter
NM_001330749.1:c.2419G>T	NP_001317678.1:p.Glu807Ter
NM_003640.4:c.3466G>T	NP_003631.2:p.Glu1156Ter
XM_011519136.2:c.3508G>T	XP_011517438.1:p.Glu1170Ter
XR_929859.3:n.3855G>T
NM_003640.5:c.3466G>T MANE Select	NP_003631.2:p.Glu1156Ter
NM_001318360.2:c.3124G>T	NP_001305289.1:p.Glu1042Ter
NM_001330749.2:c.2419G>T	NP_001317678.1:p.Glu807Ter