Canonical Allele Identifier: CA374411970

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641825G>T (hg19) ; chr9:g.108879545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879545G>T , CM000671.2:g.108879545G>T	GRCh38
NC_000009.11:g.111641825G>T , CM000671.1:g.111641825G>T	GRCh37
NC_000009.10:g.110681646G>T	NCBI36
NG_008788.1:g.59784C>A , LRG_251:g.59784C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3473C>A MANE Select	ENSP00000363779.5:p.Pro1158His
ENST00000495759.6:c.*2083C>A	ENSP00000433514.2:n.*2083C>A
ENST00000674535.1:c.3473C>A	ENSP00000502142.1:p.Pro1158His
ENST00000674704.1:n.6558C>A
ENST00000674740.1:n.356C>A
ENST00000674836.1:n.4086C>A
ENST00000674890.1:c.*708C>A	ENSP00000501870.1:n.*708C>A
ENST00000674938.1:c.3131C>A	ENSP00000502427.1:p.Pro1044His
ENST00000674948.1:c.3131C>A	ENSP00000501602.1:p.Pro1044His
ENST00000675052.1:c.3473C>A	ENSP00000502664.1:p.Pro1158His
ENST00000675062.1:n.519C>A
ENST00000675078.1:c.3473C>A	ENSP00000501549.1:p.Pro1158His
ENST00000675215.1:c.*2697C>A	ENSP00000502558.1:n.*2697C>A
ENST00000675233.1:n.5300C>A
ENST00000675321.1:c.3460+507C>A	ENSP00000502751.1:n.3460+507C>A
ENST00000675325.1:n.5430C>A
ENST00000675335.1:c.3504C>A	ENSP00000502182.1:n.3504C>A
ENST00000675400.1:n.5325C>A
ENST00000675406.1:c.3473C>A	ENSP00000501893.1:p.Pro1158His
ENST00000675458.1:c.3566C>A	ENSP00000501754.1:n.3566C>A
ENST00000675507.1:n.5269C>A
ENST00000675535.1:c.*1100C>A	ENSP00000501667.1:n.*1100C>A
ENST00000675566.1:n.5331C>A
ENST00000675580.1:n.626C>A
ENST00000675602.1:n.6521C>A
ENST00000675647.1:n.4637C>A
ENST00000675711.1:c.3590C>A	ENSP00000502485.1:n.3590C>A
ENST00000675727.1:c.3473C>A	ENSP00000501722.1:p.Pro1158His
ENST00000675748.1:n.5107C>A
ENST00000675765.1:c.*856C>A	ENSP00000502640.1:n.*856C>A
ENST00000675825.1:c.3515C>A	ENSP00000502632.1:p.Pro1172His
ENST00000675877.1:n.5317C>A
ENST00000675893.1:c.*4542C>A	ENSP00000502001.1:n.*4542C>A
ENST00000675943.1:n.7088C>A
ENST00000675979.1:c.*2716C>A	ENSP00000502208.1:n.*2716C>A
ENST00000676044.1:c.*1133C>A	ENSP00000502378.1:n.*1133C>A
ENST00000676086.1:n.5258C>A
ENST00000676121.1:n.5301C>A
ENST00000676162.1:n.202C>A
ENST00000676237.1:c.3416C>A	ENSP00000501828.1:p.Pro1139His
ENST00000676416.1:c.3173C>A	ENSP00000501660.1:p.Pro1058His
ENST00000676424.1:n.5311C>A
ENST00000676429.1:n.7942C>A
ENST00000374647.9:c.3473C>A	ENSP00000363779.5:p.Pro1158His
ENST00000467959.1:n.353C>A
ENST00000495759.5:c.613C>A
ENST00000537196.1:c.2426C>A	ENSP00000439367.1:p.Pro809His
NM_003640.3:c.3473C>A , LRG_251t1:c.3473C>A	NP_003631.2:p.Pro1158His
XM_005252285.2:c.3131C>A	XP_005252342.1:p.Pro1044His
XM_011519136.1:c.3515C>A	XP_011517438.1:p.Pro1172His
XM_011519137.1:c.3173C>A	XP_011517439.1:p.Pro1058His
NM_001318360.1:c.3131C>A	NP_001305289.1:p.Pro1044His
NM_001330749.1:c.2426C>A	NP_001317678.1:p.Pro809His
NM_003640.4:c.3473C>A	NP_003631.2:p.Pro1158His
XM_011519136.2:c.3515C>A	XP_011517438.1:p.Pro1172His
XR_929859.3:n.3862C>A
NM_003640.5:c.3473C>A MANE Select	NP_003631.2:p.Pro1158His
NM_001318360.2:c.3131C>A	NP_001305289.1:p.Pro1044His
NM_001330749.2:c.2426C>A	NP_001317678.1:p.Pro809His