Canonical Allele Identifier: CA1871334993
Community Standard Title: NM_003640.5(ELP1):c.2817C= (p.Tyr939=)
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108893986G= , CM000671.2:g.108893986G= GRCh38
NC_000009.11:g.111656266G= , CM000671.1:g.111656266G= GRCh37
NC_000009.10:g.110696087G= NCBI36
NG_008788.1:g.45343C= , LRG_251:g.45343C=

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.2817C= MANE Select NP_003631.2:p.Tyr939=
ENST00000374647.10:c.2817C= MANE Select ENSP00000363779.5:p.Tyr939=
NM_001318360.1:c.2475C= NP_001305289.1:p.Tyr825=
NM_001318360.2:c.2475C= NP_001305289.1:p.Tyr825=
NM_001330749.1:c.1770C= NP_001317678.1:p.Tyr590=
NM_001330749.2:c.1770C= NP_001317678.1:p.Tyr590=
NM_003640.3:c.2817C= , LRG_251t1:c.2817C= NP_003631.2:p.Tyr939=
NM_003640.4:c.2817C= NP_003631.2:p.Tyr939=
ENST00000374647.9:c.2817C= ENSP00000363779.5:p.Tyr939=
ENST00000495759.6:c.*1427C= ENSP00000433514.2:n.*1427C=
ENST00000537196.1:c.1770C= ENSP00000439367.1:p.Tyr590=
ENST00000674535.1:c.2817C= ENSP00000502142.1:p.Tyr939=
ENST00000674704.1:n.5902C=
ENST00000674836.1:n.3430C=
ENST00000674890.1:c.*52C= ENSP00000501870.1:n.*52C=
ENST00000674938.1:c.2475C= ENSP00000502427.1:p.Tyr825=
ENST00000674948.1:c.2475C= ENSP00000501602.1:p.Tyr825=
ENST00000675052.1:c.2817C= ENSP00000502664.1:p.Tyr939=
ENST00000675078.1:c.2817C= ENSP00000501549.1:p.Tyr939=
ENST00000675215.1:c.*2041C= ENSP00000502558.1:n.*2041C=
ENST00000675233.1:n.4644C=
ENST00000675321.1:c.2817C= ENSP00000502751.1:p.Tyr939=
ENST00000675325.1:n.4774C=
ENST00000675335.1:c.2848C= ENSP00000502182.1:n.2848C=
ENST00000675400.1:n.4552C=
ENST00000675406.1:c.2817C= ENSP00000501893.1:p.Tyr939=
ENST00000675458.1:c.2910C= ENSP00000501754.1:n.2910C=
ENST00000675507.1:n.4613C=
ENST00000675535.1:c.*444C= ENSP00000501667.1:n.*444C=
ENST00000675566.1:n.4675C=
ENST00000675602.1:n.5865C=
ENST00000675647.1:n.3122C=
ENST00000675711.1:c.2817C= ENSP00000502485.1:p.Tyr939=
ENST00000675727.1:c.2817C= ENSP00000501722.1:p.Tyr939=
ENST00000675748.1:n.4451C=
ENST00000675765.1:c.*200C= ENSP00000502640.1:n.*200C=
ENST00000675825.1:c.2817C= ENSP00000502632.1:p.Tyr939=
ENST00000675877.1:n.3122C=
ENST00000675893.1:c.*3886C= ENSP00000502001.1:n.*3886C=
ENST00000675943.1:n.6432C=
ENST00000675979.1:c.*2060C= ENSP00000502208.1:n.*2060C=
ENST00000676044.1:c.*477C= ENSP00000502378.1:n.*477C=
ENST00000676086.1:n.4602C=
ENST00000676121.1:n.4645C=
ENST00000676237.1:c.2718C= ENSP00000501828.1:p.Tyr906=
ENST00000676416.1:c.2475C= ENSP00000501660.1:p.Tyr825=
ENST00000676424.1:n.4613C=
ENST00000676429.1:n.7286C=
XM_005252285.2:c.2475C= XP_005252342.1:p.Tyr825=
XM_011519136.1:c.2817C= XP_011517438.1:p.Tyr939=
XM_011519136.2:c.2817C= XP_011517438.1:p.Tyr939=
XM_011519137.1:c.2475C= XP_011517439.1:p.Tyr825=
XR_929859.1:n.3195C=
XR_929859.3:n.3206C=