Canonical Allele Identifier: CA374419744

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108896503G>T , CM000671.2:g.108896503G>T	GRCh38
NC_000009.11:g.111658783G>T , CM000671.1:g.111658783G>T	GRCh37
NC_000009.10:g.110698604G>T	NCBI36
NG_008788.1:g.42826C>A , LRG_251:g.42826C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.2729C>A MANE Select	NP_003631.2:p.Ser910Ter
ENST00000374647.10:c.2729C>A MANE Select	ENSP00000363779.5:p.Ser910Ter
NM_001318360.1:c.2387C>A	NP_001305289.1:p.Ser796Ter
NM_001318360.2:c.2387C>A	NP_001305289.1:p.Ser796Ter
NM_001330749.1:c.1682C>A	NP_001317678.1:p.Ser561Ter
NM_001330749.2:c.1682C>A	NP_001317678.1:p.Ser561Ter
NM_003640.3:c.2729C>A , LRG_251t1:c.2729C>A	NP_003631.2:p.Ser910Ter
NM_003640.4:c.2729C>A	NP_003631.2:p.Ser910Ter
ENST00000374647.9:c.2729C>A	ENSP00000363779.5:p.Ser910Ter
ENST00000495759.6:c.*1339C>A	ENSP00000433514.2:n.*1339C>A
ENST00000537196.1:c.1682C>A	ENSP00000439367.1:p.Ser561Ter
ENST00000674535.1:c.2729C>A	ENSP00000502142.1:p.Ser910Ter
ENST00000674704.1:n.5814C>A
ENST00000674836.1:n.3342C>A
ENST00000674890.1:c.2729C>A	ENSP00000501870.1:p.Ser910Ter
ENST00000674938.1:c.2387C>A	ENSP00000502427.1:p.Ser796Ter
ENST00000674948.1:c.2387C>A	ENSP00000501602.1:p.Ser796Ter
ENST00000675052.1:c.2729C>A	ENSP00000502664.1:p.Ser910Ter
ENST00000675078.1:c.2729C>A	ENSP00000501549.1:p.Ser910Ter
ENST00000675215.1:c.*1953C>A	ENSP00000502558.1:n.*1953C>A
ENST00000675233.1:n.4556C>A
ENST00000675321.1:c.2729C>A	ENSP00000502751.1:p.Ser910Ter
ENST00000675325.1:n.4686C>A
ENST00000675335.1:c.2760C>A	ENSP00000502182.1:n.2760C>A
ENST00000675400.1:n.4464C>A
ENST00000675406.1:c.2729C>A	ENSP00000501893.1:p.Ser910Ter
ENST00000675458.1:c.2822C>A	ENSP00000501754.1:n.2822C>A
ENST00000675507.1:n.4525C>A
ENST00000675535.1:c.*356C>A	ENSP00000501667.1:n.*356C>A
ENST00000675566.1:n.4587C>A
ENST00000675602.1:n.5777C>A
ENST00000675647.1:n.3034C>A
ENST00000675711.1:c.2729C>A	ENSP00000502485.1:p.Ser910Ter
ENST00000675727.1:c.2729C>A	ENSP00000501722.1:p.Ser910Ter
ENST00000675748.1:n.4363C>A
ENST00000675765.1:c.*112C>A	ENSP00000502640.1:n.*112C>A
ENST00000675825.1:c.2729C>A	ENSP00000502632.1:p.Ser910Ter
ENST00000675877.1:n.3034C>A
ENST00000675893.1:c.*3798C>A	ENSP00000502001.1:n.*3798C>A
ENST00000675943.1:n.6344C>A
ENST00000675979.1:c.*1972C>A	ENSP00000502208.1:n.*1972C>A
ENST00000676044.1:c.*389C>A	ENSP00000502378.1:n.*389C>A
ENST00000676086.1:n.4514C>A
ENST00000676121.1:n.4557C>A
ENST00000676237.1:c.2630C>A	ENSP00000501828.1:p.Ser877Ter
ENST00000676416.1:c.2387C>A	ENSP00000501660.1:p.Ser796Ter
ENST00000676424.1:n.4525C>A
ENST00000676429.1:n.7198C>A
XM_005252285.2:c.2387C>A	XP_005252342.1:p.Ser796Ter
XM_011519136.1:c.2729C>A	XP_011517438.1:p.Ser910Ter
XM_011519136.2:c.2729C>A	XP_011517438.1:p.Ser910Ter
XM_011519137.1:c.2387C>A	XP_011517439.1:p.Ser796Ter
XR_929859.1:n.3107C>A
XR_929859.3:n.3118C>A