Canonical Allele Identifier: CA5174450

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108891326C>T , CM000671.2:g.108891326C>T	GRCh38
NC_000009.11:g.111653606C>T , CM000671.1:g.111653606C>T	GRCh37
NC_000009.10:g.110693427C>T	NCBI36
NG_008788.1:g.48003G>A , LRG_251:g.48003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3037G>A MANE Select	ENSP00000363779.5:p.Gly1013Ser
ENST00000495759.6:c.*1647G>A	ENSP00000433514.2:n.*1647G>A
ENST00000674535.1:c.3037G>A	ENSP00000502142.1:p.Gly1013Ser
ENST00000674704.1:n.6122G>A
ENST00000674836.1:n.3650G>A
ENST00000674890.1:c.*272G>A	ENSP00000501870.1:n.*272G>A
ENST00000674938.1:c.2695G>A	ENSP00000502427.1:p.Gly899Ser
ENST00000674948.1:c.2695G>A	ENSP00000501602.1:p.Gly899Ser
ENST00000675052.1:c.3037G>A	ENSP00000502664.1:p.Gly1013Ser
ENST00000675078.1:c.3037G>A	ENSP00000501549.1:p.Gly1013Ser
ENST00000675215.1:c.*2261G>A	ENSP00000502558.1:n.*2261G>A
ENST00000675233.1:n.4864G>A
ENST00000675321.1:c.3037G>A	ENSP00000502751.1:p.Gly1013Ser
ENST00000675325.1:n.4994G>A
ENST00000675335.1:c.3068G>A	ENSP00000502182.1:n.3068G>A
ENST00000675400.1:n.4772G>A
ENST00000675406.1:c.3037G>A	ENSP00000501893.1:p.Gly1013Ser
ENST00000675458.1:c.3130G>A	ENSP00000501754.1:n.3130G>A
ENST00000675507.1:n.4833G>A
ENST00000675535.1:c.*664G>A	ENSP00000501667.1:n.*664G>A
ENST00000675566.1:n.4895G>A
ENST00000675602.1:n.6085G>A
ENST00000675647.1:n.4201G>A
ENST00000675711.1:c.3037G>A	ENSP00000502485.1:p.Gly1013Ser
ENST00000675727.1:c.3037G>A	ENSP00000501722.1:p.Gly1013Ser
ENST00000675748.1:n.4671G>A
ENST00000675765.1:c.*420G>A	ENSP00000502640.1:n.*420G>A
ENST00000675825.1:c.3037G>A	ENSP00000502632.1:p.Gly1013Ser
ENST00000675877.1:n.3342G>A
ENST00000675893.1:c.*4106G>A	ENSP00000502001.1:n.*4106G>A
ENST00000675943.1:n.6652G>A
ENST00000675979.1:c.*2280G>A	ENSP00000502208.1:n.*2280G>A
ENST00000676044.1:c.*697G>A	ENSP00000502378.1:n.*697G>A
ENST00000676086.1:n.4822G>A
ENST00000676121.1:n.4865G>A
ENST00000676237.1:c.2938G>A	ENSP00000501828.1:p.Gly980Ser
ENST00000676416.1:c.2695G>A	ENSP00000501660.1:p.Gly899Ser
ENST00000676424.1:n.4833G>A
ENST00000676429.1:n.7506G>A
ENST00000374647.9:c.3037G>A	ENSP00000363779.5:p.Gly1013Ser
ENST00000495759.5:c.177G>A
ENST00000537196.1:c.1990G>A	ENSP00000439367.1:p.Gly664Ser
NM_003640.3:c.3037G>A , LRG_251t1:c.3037G>A	NP_003631.2:p.Gly1013Ser
XM_005252285.2:c.2695G>A	XP_005252342.1:p.Gly899Ser
XM_011519136.1:c.3037G>A	XP_011517438.1:p.Gly1013Ser
XM_011519137.1:c.2695G>A	XP_011517439.1:p.Gly899Ser
NM_001318360.1:c.2695G>A	NP_001305289.1:p.Gly899Ser
NM_001330749.1:c.1990G>A	NP_001317678.1:p.Gly664Ser
NM_003640.4:c.3037G>A	NP_003631.2:p.Gly1013Ser
XM_011519136.2:c.3037G>A	XP_011517438.1:p.Gly1013Ser
XR_929859.3:n.3426G>A
NM_003640.5:c.3037G>A MANE Select	NP_003631.2:p.Gly1013Ser
NM_001318360.2:c.2695G>A	NP_001305289.1:p.Gly899Ser
NM_001330749.2:c.1990G>A	NP_001317678.1:p.Gly664Ser