Canonical Allele Identifier: CA374418884

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111656271T>A (hg19) ; chr9:g.108893991T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893991T>A , CM000671.2:g.108893991T>A	GRCh38
NC_000009.11:g.111656271T>A , CM000671.1:g.111656271T>A	GRCh37
NC_000009.10:g.110696092T>A	NCBI36
NG_008788.1:g.45338A>T , LRG_251:g.45338A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2812A>T MANE Select	ENSP00000363779.5:p.Lys938Ter
ENST00000495759.6:c.*1422A>T	ENSP00000433514.2:n.*1422A>T
ENST00000674535.1:c.2812A>T	ENSP00000502142.1:p.Lys938Ter
ENST00000674704.1:n.5897A>T
ENST00000674836.1:n.3425A>T
ENST00000674890.1:c.*47A>T	ENSP00000501870.1:n.*47A>T
ENST00000674938.1:c.2470A>T	ENSP00000502427.1:p.Lys824Ter
ENST00000674948.1:c.2470A>T	ENSP00000501602.1:p.Lys824Ter
ENST00000675052.1:c.2812A>T	ENSP00000502664.1:p.Lys938Ter
ENST00000675078.1:c.2812A>T	ENSP00000501549.1:p.Lys938Ter
ENST00000675215.1:c.*2036A>T	ENSP00000502558.1:n.*2036A>T
ENST00000675233.1:n.4639A>T
ENST00000675321.1:c.2812A>T	ENSP00000502751.1:p.Lys938Ter
ENST00000675325.1:n.4769A>T
ENST00000675335.1:c.2843A>T	ENSP00000502182.1:n.2843A>T
ENST00000675400.1:n.4547A>T
ENST00000675406.1:c.2812A>T	ENSP00000501893.1:p.Lys938Ter
ENST00000675458.1:c.2905A>T	ENSP00000501754.1:n.2905A>T
ENST00000675507.1:n.4608A>T
ENST00000675535.1:c.*439A>T	ENSP00000501667.1:n.*439A>T
ENST00000675566.1:n.4670A>T
ENST00000675602.1:n.5860A>T
ENST00000675647.1:n.3117A>T
ENST00000675711.1:c.2812A>T	ENSP00000502485.1:p.Lys938Ter
ENST00000675727.1:c.2812A>T	ENSP00000501722.1:p.Lys938Ter
ENST00000675748.1:n.4446A>T
ENST00000675765.1:c.*195A>T	ENSP00000502640.1:n.*195A>T
ENST00000675825.1:c.2812A>T	ENSP00000502632.1:p.Lys938Ter
ENST00000675877.1:n.3117A>T
ENST00000675893.1:c.*3881A>T	ENSP00000502001.1:n.*3881A>T
ENST00000675943.1:n.6427A>T
ENST00000675979.1:c.*2055A>T	ENSP00000502208.1:n.*2055A>T
ENST00000676044.1:c.*472A>T	ENSP00000502378.1:n.*472A>T
ENST00000676086.1:n.4597A>T
ENST00000676121.1:n.4640A>T
ENST00000676237.1:c.2713A>T	ENSP00000501828.1:p.Lys905Ter
ENST00000676416.1:c.2470A>T	ENSP00000501660.1:p.Lys824Ter
ENST00000676424.1:n.4608A>T
ENST00000676429.1:n.7281A>T
ENST00000374647.9:c.2812A>T	ENSP00000363779.5:p.Lys938Ter
ENST00000537196.1:c.1765A>T	ENSP00000439367.1:p.Lys589Ter
NM_003640.3:c.2812A>T , LRG_251t1:c.2812A>T	NP_003631.2:p.Lys938Ter
XM_005252285.2:c.2470A>T	XP_005252342.1:p.Lys824Ter
XM_011519136.1:c.2812A>T	XP_011517438.1:p.Lys938Ter
XM_011519137.1:c.2470A>T	XP_011517439.1:p.Lys824Ter
XR_929859.1:n.3190A>T
NM_001318360.1:c.2470A>T	NP_001305289.1:p.Lys824Ter
NM_001330749.1:c.1765A>T	NP_001317678.1:p.Lys589Ter
NM_003640.4:c.2812A>T	NP_003631.2:p.Lys938Ter
XM_011519136.2:c.2812A>T	XP_011517438.1:p.Lys938Ter
XR_929859.3:n.3201A>T
NM_003640.5:c.2812A>T MANE Select	NP_003631.2:p.Lys938Ter
NM_001318360.2:c.2470A>T	NP_001305289.1:p.Lys824Ter
NM_001330749.2:c.1765A>T	NP_001317678.1:p.Lys589Ter