Canonical Allele Identifier: CA1871345979
Community Standard Title: NM_003640.5(ELP1):c.751A= (p.Ser251=)
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108917660T= , CM000671.2:g.108917660T= GRCh38
NC_000009.11:g.111679940T= , CM000671.1:g.111679940T= GRCh37
NC_000009.10:g.110719761T= NCBI36
NG_008788.1:g.21669A= , LRG_251:g.21669A=

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.751A= MANE Select NP_003631.2:p.Ser251=
ENST00000374647.10:c.751A= MANE Select ENSP00000363779.5:p.Ser251=
NM_001318360.1:c.409A= NP_001305289.1:p.Ser137=
NM_001318360.2:c.409A= NP_001305289.1:p.Ser137=
NM_001330749.1:c.-297A= NP_001317678.1:n.-297A=
NM_001330749.2:c.-297A= NP_001317678.1:n.-297A=
NM_003640.3:c.751A= , LRG_251t1:c.751A= NP_003631.2:p.Ser251=
NM_003640.4:c.751A= NP_003631.2:p.Ser251=
ENST00000374647.9:c.751A= ENSP00000363779.5:p.Ser251=
ENST00000495759.6:c.552+5182A= ENSP00000433514.2:n.552+5182A=
ENST00000537196.1:c.-297A= ENSP00000439367.1:n.-297A=
ENST00000674535.1:c.751A= ENSP00000502142.1:p.Ser251=
ENST00000674704.1:n.2558A=
ENST00000674836.1:n.1056A=
ENST00000674890.1:c.751A= ENSP00000501870.1:p.Ser251=
ENST00000674938.1:c.409A= ENSP00000502427.1:p.Ser137=
ENST00000674948.1:c.409A= ENSP00000501602.1:p.Ser137=
ENST00000675052.1:c.751A= ENSP00000502664.1:p.Ser251=
ENST00000675078.1:c.751A= ENSP00000501549.1:p.Ser251=
ENST00000675215.1:c.563A= ENSP00000502558.1:p.Gln188=
ENST00000675233.1:n.2547A=
ENST00000675321.1:c.751A= ENSP00000502751.1:p.Ser251=
ENST00000675325.1:n.2547A=
ENST00000675335.1:c.751A= ENSP00000502182.1:p.Ser251=
ENST00000675400.1:n.2424A=
ENST00000675406.1:c.751A= ENSP00000501893.1:p.Ser251=
ENST00000675458.1:c.844A= ENSP00000501754.1:n.844A=
ENST00000675507.1:n.2547A=
ENST00000675535.1:c.751A= ENSP00000501667.1:p.Ser251=
ENST00000675566.1:n.2547A=
ENST00000675602.1:n.2550A=
ENST00000675647.1:n.1056A=
ENST00000675711.1:c.751A= ENSP00000502485.1:p.Ser251=
ENST00000675727.1:c.751A= ENSP00000501722.1:p.Ser251=
ENST00000675748.1:n.2385A=
ENST00000675765.1:c.751A= ENSP00000502640.1:p.Ser251=
ENST00000675825.1:c.751A= ENSP00000502632.1:p.Ser251=
ENST00000675877.1:n.1056A=
ENST00000675893.1:c.*1820A= ENSP00000502001.1:n.*1820A=
ENST00000675943.1:n.2547A=
ENST00000675979.1:c.660A= ENSP00000502208.1:p.Ala220=
ENST00000676044.1:c.751A= ENSP00000502378.1:p.Ser251=
ENST00000676086.1:n.2547A=
ENST00000676121.1:n.2579A=
ENST00000676237.1:c.652A= ENSP00000501828.1:p.Ser218=
ENST00000676416.1:c.409A= ENSP00000501660.1:p.Ser137=
ENST00000676424.1:n.2547A=
ENST00000676429.1:n.5220A=
XM_005252285.2:c.409A= XP_005252342.1:p.Ser137=
XM_011519136.1:c.751A= XP_011517438.1:p.Ser251=
XM_011519136.2:c.751A= XP_011517438.1:p.Ser251=
XM_011519137.1:c.409A= XP_011517439.1:p.Ser137=
XR_929859.1:n.1067A=
XR_929859.3:n.1078A=