Canonical Allele Identifier: CA374411998

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641833A>T (hg19) ; chr9:g.108879553A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879553A>T , CM000671.2:g.108879553A>T	GRCh38
NC_000009.11:g.111641833A>T , CM000671.1:g.111641833A>T	GRCh37
NC_000009.10:g.110681654A>T	NCBI36
NG_008788.1:g.59776T>A , LRG_251:g.59776T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3465T>A MANE Select	ENSP00000363779.5:p.Asp1155Glu
ENST00000495759.6:c.*2075T>A	ENSP00000433514.2:n.*2075T>A
ENST00000674535.1:c.3465T>A	ENSP00000502142.1:p.Asp1155Glu
ENST00000674704.1:n.6550T>A
ENST00000674740.1:n.348T>A
ENST00000674836.1:n.4078T>A
ENST00000674890.1:c.*700T>A	ENSP00000501870.1:n.*700T>A
ENST00000674938.1:c.3123T>A	ENSP00000502427.1:p.Asp1041Glu
ENST00000674948.1:c.3123T>A	ENSP00000501602.1:p.Asp1041Glu
ENST00000675052.1:c.3465T>A	ENSP00000502664.1:p.Asp1155Glu
ENST00000675062.1:n.511T>A
ENST00000675078.1:c.3465T>A	ENSP00000501549.1:p.Asp1155Glu
ENST00000675215.1:c.*2689T>A	ENSP00000502558.1:n.*2689T>A
ENST00000675233.1:n.5292T>A
ENST00000675321.1:c.3460+499T>A	ENSP00000502751.1:n.3460+499T>A
ENST00000675325.1:n.5422T>A
ENST00000675335.1:c.3496T>A	ENSP00000502182.1:n.3496T>A
ENST00000675400.1:n.5317T>A
ENST00000675406.1:c.3465T>A	ENSP00000501893.1:p.Asp1155Glu
ENST00000675458.1:c.3558T>A	ENSP00000501754.1:n.3558T>A
ENST00000675507.1:n.5261T>A
ENST00000675535.1:c.*1092T>A	ENSP00000501667.1:n.*1092T>A
ENST00000675566.1:n.5323T>A
ENST00000675580.1:n.618T>A
ENST00000675602.1:n.6513T>A
ENST00000675647.1:n.4629T>A
ENST00000675711.1:c.3582T>A	ENSP00000502485.1:n.3582T>A
ENST00000675727.1:c.3465T>A	ENSP00000501722.1:p.Asp1155Glu
ENST00000675748.1:n.5099T>A
ENST00000675765.1:c.*848T>A	ENSP00000502640.1:n.*848T>A
ENST00000675825.1:c.3507T>A	ENSP00000502632.1:p.Asp1169Glu
ENST00000675877.1:n.5309T>A
ENST00000675893.1:c.*4534T>A	ENSP00000502001.1:n.*4534T>A
ENST00000675943.1:n.7080T>A
ENST00000675979.1:c.*2708T>A	ENSP00000502208.1:n.*2708T>A
ENST00000676044.1:c.*1125T>A	ENSP00000502378.1:n.*1125T>A
ENST00000676086.1:n.5250T>A
ENST00000676121.1:n.5293T>A
ENST00000676162.1:n.194T>A
ENST00000676237.1:c.3408T>A	ENSP00000501828.1:p.Asp1136Glu
ENST00000676416.1:c.3165T>A	ENSP00000501660.1:p.Asp1055Glu
ENST00000676424.1:n.5303T>A
ENST00000676429.1:n.7934T>A
ENST00000374647.9:c.3465T>A	ENSP00000363779.5:p.Asp1155Glu
ENST00000467959.1:n.345T>A
ENST00000495759.5:c.605T>A
ENST00000537196.1:c.2418T>A	ENSP00000439367.1:p.Asp806Glu
NM_003640.3:c.3465T>A , LRG_251t1:c.3465T>A	NP_003631.2:p.Asp1155Glu
XM_005252285.2:c.3123T>A	XP_005252342.1:p.Asp1041Glu
XM_011519136.1:c.3507T>A	XP_011517438.1:p.Asp1169Glu
XM_011519137.1:c.3165T>A	XP_011517439.1:p.Asp1055Glu
NM_001318360.1:c.3123T>A	NP_001305289.1:p.Asp1041Glu
NM_001330749.1:c.2418T>A	NP_001317678.1:p.Asp806Glu
NM_003640.4:c.3465T>A	NP_003631.2:p.Asp1155Glu
XM_011519136.2:c.3507T>A	XP_011517438.1:p.Asp1169Glu
XR_929859.3:n.3854T>A
NM_003640.5:c.3465T>A MANE Select	NP_003631.2:p.Asp1155Glu
NM_001318360.2:c.3123T>A	NP_001305289.1:p.Asp1041Glu
NM_001330749.2:c.2418T>A	NP_001317678.1:p.Asp806Glu