Canonical Allele Identifier: CA466673101

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111651666C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889386C>T , CM000671.2:g.108889386C>T	GRCh38
NC_000009.11:g.111651666C>T , CM000671.1:g.111651666C>T	GRCh37
NC_000009.10:g.110691487C>T	NCBI36
NG_008788.1:g.49943G>A , LRG_251:g.49943G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3168G>A MANE Select	ENSP00000363779.5:p.Leu1056=
ENST00000495759.6:c.*1778G>A	ENSP00000433514.2:n.*1778G>A
ENST00000674535.1:c.3168G>A	ENSP00000502142.1:p.Leu1056=
ENST00000674704.1:n.6253G>A
ENST00000674836.1:n.3781G>A
ENST00000674890.1:c.*403G>A	ENSP00000501870.1:n.*403G>A
ENST00000674938.1:c.2826G>A	ENSP00000502427.1:p.Leu942=
ENST00000674948.1:c.2826G>A	ENSP00000501602.1:p.Leu942=
ENST00000675052.1:c.3168G>A	ENSP00000502664.1:p.Leu1056=
ENST00000675078.1:c.3168G>A	ENSP00000501549.1:p.Leu1056=
ENST00000675215.1:c.*2392G>A	ENSP00000502558.1:n.*2392G>A
ENST00000675233.1:n.4995G>A
ENST00000675321.1:c.3168G>A	ENSP00000502751.1:p.Leu1056=
ENST00000675325.1:n.5125G>A
ENST00000675335.1:c.3199G>A	ENSP00000502182.1:n.3199G>A
ENST00000675400.1:n.4903G>A
ENST00000675406.1:c.3168G>A	ENSP00000501893.1:p.Leu1056=
ENST00000675458.1:c.3261G>A	ENSP00000501754.1:n.3261G>A
ENST00000675507.1:n.4964G>A
ENST00000675535.1:c.*795G>A	ENSP00000501667.1:n.*795G>A
ENST00000675566.1:n.5026G>A
ENST00000675602.1:n.6216G>A
ENST00000675647.1:n.4332G>A
ENST00000675711.1:c.3168G>A	ENSP00000502485.1:p.Leu1056=
ENST00000675727.1:c.3168G>A	ENSP00000501722.1:p.Leu1056=
ENST00000675748.1:n.4802G>A
ENST00000675765.1:c.*551G>A	ENSP00000502640.1:n.*551G>A
ENST00000675825.1:c.3168G>A	ENSP00000502632.1:p.Leu1056=
ENST00000675877.1:n.3473G>A
ENST00000675893.1:c.*4237G>A	ENSP00000502001.1:n.*4237G>A
ENST00000675943.1:n.6783G>A
ENST00000675979.1:c.*2411G>A	ENSP00000502208.1:n.*2411G>A
ENST00000676044.1:c.*828G>A	ENSP00000502378.1:n.*828G>A
ENST00000676086.1:n.4953G>A
ENST00000676121.1:n.4996G>A
ENST00000676237.1:c.3069G>A	ENSP00000501828.1:p.Leu1023=
ENST00000676416.1:c.2826G>A	ENSP00000501660.1:p.Leu942=
ENST00000676424.1:n.4964G>A
ENST00000676429.1:n.7637G>A
ENST00000374647.9:c.3168G>A	ENSP00000363779.5:p.Leu1056=
ENST00000467959.1:n.48G>A
ENST00000495759.5:c.308G>A
ENST00000537196.1:c.2121G>A	ENSP00000439367.1:p.Leu707=
NM_003640.3:c.3168G>A , LRG_251t1:c.3168G>A	NP_003631.2:p.Leu1056=
XM_005252285.2:c.2826G>A	XP_005252342.1:p.Leu942=
XM_011519136.1:c.3168G>A	XP_011517438.1:p.Leu1056=
XM_011519137.1:c.2826G>A	XP_011517439.1:p.Leu942=
NM_001318360.1:c.2826G>A	NP_001305289.1:p.Leu942=
NM_001330749.1:c.2121G>A	NP_001317678.1:p.Leu707=
NM_003640.4:c.3168G>A	NP_003631.2:p.Leu1056=
XM_011519136.2:c.3168G>A	XP_011517438.1:p.Leu1056=
XR_929859.3:n.3557G>A
NM_003640.5:c.3168G>A MANE Select	NP_003631.2:p.Leu1056=
NM_001318360.2:c.2826G>A	NP_001305289.1:p.Leu942=
NM_001330749.2:c.2121G>A	NP_001317678.1:p.Leu707=