Canonical Allele Identifier: CA466672600

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641833A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3465T>C MANE Select	ENSP00000363779.5:p.Asp1155=
ENST00000495759.6:c.*2075T>C	ENSP00000433514.2:n.*2075T>C
ENST00000674535.1:c.3465T>C	ENSP00000502142.1:p.Asp1155=
ENST00000674704.1:n.6550T>C
ENST00000674740.1:n.348T>C
ENST00000674836.1:n.4078T>C
ENST00000674890.1:c.*700T>C	ENSP00000501870.1:n.*700T>C
ENST00000674938.1:c.3123T>C	ENSP00000502427.1:p.Asp1041=
ENST00000674948.1:c.3123T>C	ENSP00000501602.1:p.Asp1041=
ENST00000675052.1:c.3465T>C	ENSP00000502664.1:p.Asp1155=
ENST00000675062.1:n.511T>C
ENST00000675078.1:c.3465T>C	ENSP00000501549.1:p.Asp1155=
ENST00000675215.1:c.*2689T>C	ENSP00000502558.1:n.*2689T>C
ENST00000675233.1:n.5292T>C
ENST00000675321.1:c.3460+499T>C	ENSP00000502751.1:n.3460+499T>C
ENST00000675325.1:n.5422T>C
ENST00000675335.1:c.3496T>C	ENSP00000502182.1:n.3496T>C
ENST00000675400.1:n.5317T>C
ENST00000675406.1:c.3465T>C	ENSP00000501893.1:p.Asp1155=
ENST00000675458.1:c.3558T>C	ENSP00000501754.1:n.3558T>C
ENST00000675507.1:n.5261T>C
ENST00000675535.1:c.*1092T>C	ENSP00000501667.1:n.*1092T>C
ENST00000675566.1:n.5323T>C
ENST00000675580.1:n.618T>C
ENST00000675602.1:n.6513T>C
ENST00000675647.1:n.4629T>C
ENST00000675711.1:c.3582T>C	ENSP00000502485.1:n.3582T>C
ENST00000675727.1:c.3465T>C	ENSP00000501722.1:p.Asp1155=
ENST00000675748.1:n.5099T>C
ENST00000675765.1:c.*848T>C	ENSP00000502640.1:n.*848T>C
ENST00000675825.1:c.3507T>C	ENSP00000502632.1:p.Asp1169=
ENST00000675877.1:n.5309T>C
ENST00000675893.1:c.*4534T>C	ENSP00000502001.1:n.*4534T>C
ENST00000675943.1:n.7080T>C
ENST00000675979.1:c.*2708T>C	ENSP00000502208.1:n.*2708T>C
ENST00000676044.1:c.*1125T>C	ENSP00000502378.1:n.*1125T>C
ENST00000676086.1:n.5250T>C
ENST00000676121.1:n.5293T>C
ENST00000676162.1:n.194T>C
ENST00000676237.1:c.3408T>C	ENSP00000501828.1:p.Asp1136=
ENST00000676416.1:c.3165T>C	ENSP00000501660.1:p.Asp1055=
ENST00000676424.1:n.5303T>C
ENST00000676429.1:n.7934T>C
ENST00000374647.9:c.3465T>C	ENSP00000363779.5:p.Asp1155=
ENST00000467959.1:n.345T>C
ENST00000495759.5:c.605T>C
ENST00000537196.1:c.2418T>C	ENSP00000439367.1:p.Asp806=
NM_003640.3:c.3465T>C , LRG_251t1:c.3465T>C	NP_003631.2:p.Asp1155=
XM_005252285.2:c.3123T>C	XP_005252342.1:p.Asp1041=
XM_011519136.1:c.3507T>C	XP_011517438.1:p.Asp1169=
XM_011519137.1:c.3165T>C	XP_011517439.1:p.Asp1055=
NM_001318360.1:c.3123T>C	NP_001305289.1:p.Asp1041=
NM_001330749.1:c.2418T>C	NP_001317678.1:p.Asp806=
NM_003640.4:c.3465T>C	NP_003631.2:p.Asp1155=
XM_011519136.2:c.3507T>C	XP_011517438.1:p.Asp1169=
XR_929859.3:n.3854T>C
NM_003640.5:c.3465T>C MANE Select	NP_003631.2:p.Asp1155=
NM_001318360.2:c.3123T>C	NP_001305289.1:p.Asp1041=
NM_001330749.2:c.2418T>C	NP_001317678.1:p.Asp806=