Canonical Allele Identifier: CA374429651

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108912463C>T , CM000671.2:g.108912463C>T	GRCh38
NC_000009.11:g.111674743C>T , CM000671.1:g.111674743C>T	GRCh37
NC_000009.10:g.110714564C>T	NCBI36
NG_008788.1:g.26866G>A , LRG_251:g.26866G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.990G>A MANE Select	NP_003631.2:p.Trp330Ter
ENST00000374647.10:c.990G>A MANE Select	ENSP00000363779.5:p.Trp330Ter
NM_001318360.1:c.648G>A	NP_001305289.1:p.Trp216Ter
NM_001318360.2:c.648G>A	NP_001305289.1:p.Trp216Ter
NM_001330749.1:c.-58G>A	NP_001317678.1:n.-58G>A
NM_001330749.2:c.-58G>A	NP_001317678.1:n.-58G>A
NM_003640.3:c.990G>A , LRG_251t1:c.990G>A	NP_003631.2:p.Trp330Ter
NM_003640.4:c.990G>A	NP_003631.2:p.Trp330Ter
ENST00000374647.9:c.990G>A	ENSP00000363779.5:p.Trp330Ter
ENST00000495759.6:c.553-4059G>A	ENSP00000433514.2:n.553-4059G>A
ENST00000537196.1:c.-58G>A	ENSP00000439367.1:n.-58G>A
ENST00000674535.1:c.990G>A	ENSP00000502142.1:p.Trp330Ter
ENST00000674704.1:n.2797G>A
ENST00000674836.1:n.1295G>A
ENST00000674890.1:c.990G>A	ENSP00000501870.1:p.Trp330Ter
ENST00000674938.1:c.648G>A	ENSP00000502427.1:p.Trp216Ter
ENST00000674948.1:c.648G>A	ENSP00000501602.1:p.Trp216Ter
ENST00000675052.1:c.990G>A	ENSP00000502664.1:p.Trp330Ter
ENST00000675078.1:c.990G>A	ENSP00000501549.1:p.Trp330Ter
ENST00000675215.1:c.*214G>A	ENSP00000502558.1:n.*214G>A
ENST00000675233.1:n.2786G>A
ENST00000675321.1:c.990G>A	ENSP00000502751.1:p.Trp330Ter
ENST00000675325.1:n.2786G>A
ENST00000675335.1:c.990G>A	ENSP00000502182.1:p.Trp330Ter
ENST00000675400.1:n.2663G>A
ENST00000675406.1:c.990G>A	ENSP00000501893.1:p.Trp330Ter
ENST00000675458.1:c.1083G>A	ENSP00000501754.1:n.1083G>A
ENST00000675507.1:n.2786G>A
ENST00000675535.1:c.990G>A	ENSP00000501667.1:p.Trp330Ter
ENST00000675566.1:n.2786G>A
ENST00000675602.1:n.4038G>A
ENST00000675647.1:n.1295G>A
ENST00000675711.1:c.990G>A	ENSP00000502485.1:p.Trp330Ter
ENST00000675727.1:c.990G>A	ENSP00000501722.1:p.Trp330Ter
ENST00000675748.1:n.2624G>A
ENST00000675765.1:c.990G>A	ENSP00000502640.1:p.Trp330Ter
ENST00000675825.1:c.990G>A	ENSP00000502632.1:p.Trp330Ter
ENST00000675877.1:n.1295G>A
ENST00000675893.1:c.*2059G>A	ENSP00000502001.1:n.*2059G>A
ENST00000675943.1:n.2786G>A
ENST00000675979.1:c.*233G>A	ENSP00000502208.1:n.*233G>A
ENST00000676044.1:c.990G>A	ENSP00000502378.1:p.Trp330Ter
ENST00000676086.1:n.2786G>A
ENST00000676121.1:n.2818G>A
ENST00000676237.1:c.891G>A	ENSP00000501828.1:p.Trp297Ter
ENST00000676416.1:c.648G>A	ENSP00000501660.1:p.Trp216Ter
ENST00000676424.1:n.2786G>A
ENST00000676429.1:n.5459G>A
XM_005252285.2:c.648G>A	XP_005252342.1:p.Trp216Ter
XM_011519136.1:c.990G>A	XP_011517438.1:p.Trp330Ter
XM_011519136.2:c.990G>A	XP_011517438.1:p.Trp330Ter
XM_011519137.1:c.648G>A	XP_011517439.1:p.Trp216Ter
XR_929859.1:n.1306G>A
XR_929859.3:n.1317G>A