Canonical Allele Identifier: CA374418290

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893014A>T , CM000671.2:g.108893014A>T	GRCh38
NC_000009.11:g.111655294A>T , CM000671.1:g.111655294A>T	GRCh37
NC_000009.10:g.110695115A>T	NCBI36
NG_008788.1:g.46315T>A , LRG_251:g.46315T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.2930T>A MANE Select	NP_003631.2:p.Leu977Ter
ENST00000374647.10:c.2930T>A MANE Select	ENSP00000363779.5:p.Leu977Ter
NM_001318360.1:c.2588T>A	NP_001305289.1:p.Leu863Ter
NM_001318360.2:c.2588T>A	NP_001305289.1:p.Leu863Ter
NM_001330749.1:c.1883T>A	NP_001317678.1:p.Leu628Ter
NM_001330749.2:c.1883T>A	NP_001317678.1:p.Leu628Ter
NM_003640.3:c.2930T>A , LRG_251t1:c.2930T>A	NP_003631.2:p.Leu977Ter
NM_003640.4:c.2930T>A	NP_003631.2:p.Leu977Ter
ENST00000374647.9:c.2930T>A	ENSP00000363779.5:p.Leu977Ter
ENST00000495759.5:c.70T>A
ENST00000495759.6:c.*1540T>A	ENSP00000433514.2:n.*1540T>A
ENST00000537196.1:c.1883T>A	ENSP00000439367.1:p.Leu628Ter
ENST00000674535.1:c.2930T>A	ENSP00000502142.1:p.Leu977Ter
ENST00000674704.1:n.6015T>A
ENST00000674836.1:n.3543T>A
ENST00000674890.1:c.*165T>A	ENSP00000501870.1:n.*165T>A
ENST00000674938.1:c.2588T>A	ENSP00000502427.1:p.Leu863Ter
ENST00000674948.1:c.2588T>A	ENSP00000501602.1:p.Leu863Ter
ENST00000675052.1:c.2930T>A	ENSP00000502664.1:p.Leu977Ter
ENST00000675078.1:c.2930T>A	ENSP00000501549.1:p.Leu977Ter
ENST00000675215.1:c.*2154T>A	ENSP00000502558.1:n.*2154T>A
ENST00000675233.1:n.4757T>A
ENST00000675321.1:c.2930T>A	ENSP00000502751.1:p.Leu977Ter
ENST00000675325.1:n.4887T>A
ENST00000675335.1:c.2961T>A	ENSP00000502182.1:n.2961T>A
ENST00000675400.1:n.4665T>A
ENST00000675406.1:c.2930T>A	ENSP00000501893.1:p.Leu977Ter
ENST00000675458.1:c.3023T>A	ENSP00000501754.1:n.3023T>A
ENST00000675507.1:n.4726T>A
ENST00000675535.1:c.*557T>A	ENSP00000501667.1:n.*557T>A
ENST00000675566.1:n.4788T>A
ENST00000675602.1:n.5978T>A
ENST00000675647.1:n.4094T>A
ENST00000675711.1:c.2930T>A	ENSP00000502485.1:p.Leu977Ter
ENST00000675727.1:c.2930T>A	ENSP00000501722.1:p.Leu977Ter
ENST00000675748.1:n.4564T>A
ENST00000675765.1:c.*313T>A	ENSP00000502640.1:n.*313T>A
ENST00000675825.1:c.2930T>A	ENSP00000502632.1:p.Leu977Ter
ENST00000675877.1:n.3235T>A
ENST00000675893.1:c.*3999T>A	ENSP00000502001.1:n.*3999T>A
ENST00000675943.1:n.6545T>A
ENST00000675979.1:c.*2173T>A	ENSP00000502208.1:n.*2173T>A
ENST00000676044.1:c.*590T>A	ENSP00000502378.1:n.*590T>A
ENST00000676086.1:n.4715T>A
ENST00000676121.1:n.4758T>A
ENST00000676237.1:c.2831T>A	ENSP00000501828.1:p.Leu944Ter
ENST00000676416.1:c.2588T>A	ENSP00000501660.1:p.Leu863Ter
ENST00000676424.1:n.4726T>A
ENST00000676429.1:n.7399T>A
XM_005252285.2:c.2588T>A	XP_005252342.1:p.Leu863Ter
XM_011519136.1:c.2930T>A	XP_011517438.1:p.Leu977Ter
XM_011519136.2:c.2930T>A	XP_011517438.1:p.Leu977Ter
XM_011519137.1:c.2588T>A	XP_011517439.1:p.Leu863Ter
XR_929859.3:n.3319T>A