Canonical Allele Identifier: CA197530824
Community Standard Title: NM_003640.5(ELP1):c.2950C>T (p.Gln984Ter)
Gene: ELP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108892994G>A , CM000671.2:g.108892994G>A GRCh38
NC_000009.11:g.111655274G>A , CM000671.1:g.111655274G>A GRCh37
NC_000009.10:g.110695095G>A NCBI36
NG_008788.1:g.46335C>T , LRG_251:g.46335C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003640.5:c.2950C>T MANE Select NP_003631.2:p.Gln984Ter
ENST00000374647.10:c.2950C>T MANE Select ENSP00000363779.5:p.Gln984Ter
NM_001318360.1:c.2608C>T NP_001305289.1:p.Gln870Ter
NM_001318360.2:c.2608C>T NP_001305289.1:p.Gln870Ter
NM_001330749.1:c.1903C>T NP_001317678.1:p.Gln635Ter
NM_001330749.2:c.1903C>T NP_001317678.1:p.Gln635Ter
NM_003640.3:c.2950C>T , LRG_251t1:c.2950C>T NP_003631.2:p.Gln984Ter
NM_003640.4:c.2950C>T NP_003631.2:p.Gln984Ter
ENST00000374647.9:c.2950C>T ENSP00000363779.5:p.Gln984Ter
ENST00000495759.5:c.90C>T
ENST00000495759.6:c.*1560C>T ENSP00000433514.2:n.*1560C>T
ENST00000537196.1:c.1903C>T ENSP00000439367.1:p.Gln635Ter
ENST00000674535.1:c.2950C>T ENSP00000502142.1:p.Gln984Ter
ENST00000674704.1:n.6035C>T
ENST00000674836.1:n.3563C>T
ENST00000674890.1:c.*185C>T ENSP00000501870.1:n.*185C>T
ENST00000674938.1:c.2608C>T ENSP00000502427.1:p.Gln870Ter
ENST00000674948.1:c.2608C>T ENSP00000501602.1:p.Gln870Ter
ENST00000675052.1:c.2950C>T ENSP00000502664.1:p.Gln984Ter
ENST00000675078.1:c.2950C>T ENSP00000501549.1:p.Gln984Ter
ENST00000675215.1:c.*2174C>T ENSP00000502558.1:n.*2174C>T
ENST00000675233.1:n.4777C>T
ENST00000675321.1:c.2950C>T ENSP00000502751.1:p.Gln984Ter
ENST00000675325.1:n.4907C>T
ENST00000675335.1:c.2981C>T ENSP00000502182.1:n.2981C>T
ENST00000675400.1:n.4685C>T
ENST00000675406.1:c.2950C>T ENSP00000501893.1:p.Gln984Ter
ENST00000675458.1:c.3043C>T ENSP00000501754.1:n.3043C>T
ENST00000675507.1:n.4746C>T
ENST00000675535.1:c.*577C>T ENSP00000501667.1:n.*577C>T
ENST00000675566.1:n.4808C>T
ENST00000675602.1:n.5998C>T
ENST00000675647.1:n.4114C>T
ENST00000675711.1:c.2950C>T ENSP00000502485.1:p.Gln984Ter
ENST00000675727.1:c.2950C>T ENSP00000501722.1:p.Gln984Ter
ENST00000675748.1:n.4584C>T
ENST00000675765.1:c.*333C>T ENSP00000502640.1:n.*333C>T
ENST00000675825.1:c.2950C>T ENSP00000502632.1:p.Gln984Ter
ENST00000675877.1:n.3255C>T
ENST00000675893.1:c.*4019C>T ENSP00000502001.1:n.*4019C>T
ENST00000675943.1:n.6565C>T
ENST00000675979.1:c.*2193C>T ENSP00000502208.1:n.*2193C>T
ENST00000676044.1:c.*610C>T ENSP00000502378.1:n.*610C>T
ENST00000676086.1:n.4735C>T
ENST00000676121.1:n.4778C>T
ENST00000676237.1:c.2851C>T ENSP00000501828.1:p.Gln951Ter
ENST00000676416.1:c.2608C>T ENSP00000501660.1:p.Gln870Ter
ENST00000676424.1:n.4746C>T
ENST00000676429.1:n.7419C>T
XM_005252285.2:c.2608C>T XP_005252342.1:p.Gln870Ter
XM_011519136.1:c.2950C>T XP_011517438.1:p.Gln984Ter
XM_011519136.2:c.2950C>T XP_011517438.1:p.Gln984Ter
XM_011519137.1:c.2608C>T XP_011517439.1:p.Gln870Ter
XR_929859.3:n.3339C>T