Canonical Allele Identifier: CA374413413

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108882124C>G , CM000671.2:g.108882124C>G	GRCh38
NC_000009.11:g.111644404C>G , CM000671.1:g.111644404C>G	GRCh37
NC_000009.10:g.110684225C>G	NCBI36
NG_008788.1:g.57205G>C , LRG_251:g.57205G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003640.5:c.3285+1G>C MANE Select	NP_003631.2:n.3285+1G>C
ENST00000374647.10:c.3285+1G>C MANE Select	ENSP00000363779.5:n.3285+1G>C
NM_001318360.1:c.2943+1G>C	NP_001305289.1:n.2943+1G>C
NM_001318360.2:c.2943+1G>C	NP_001305289.1:n.2943+1G>C
NM_001330749.1:c.2238+1G>C	NP_001317678.1:n.2238+1G>C
NM_001330749.2:c.2238+1G>C	NP_001317678.1:n.2238+1G>C
NM_003640.3:c.3285+1G>C , LRG_251t1:c.3285+1G>C	NP_003631.2:n.3285+1G>C
NM_003640.4:c.3285+1G>C	NP_003631.2:n.3285+1G>C
ENST00000374647.9:c.3285+1G>C	ENSP00000363779.5:n.3285+1G>C
ENST00000467959.1:n.165+1G>C
ENST00000495759.5:c.425+1G>C
ENST00000495759.6:c.*1895+1G>C	ENSP00000433514.2:n.*1895+1G>C
ENST00000537196.1:c.2238+1G>C	ENSP00000439367.1:n.2238+1G>C
ENST00000674535.1:c.3285+1G>C	ENSP00000502142.1:n.3285+1G>C
ENST00000674704.1:n.6370+1G>C
ENST00000674740.1:n.168+1G>C
ENST00000674836.1:n.3898+1G>C
ENST00000674890.1:c.*520+1G>C	ENSP00000501870.1:n.*520+1G>C
ENST00000674938.1:c.2943+1G>C	ENSP00000502427.1:n.2943+1G>C
ENST00000674948.1:c.2943+1G>C	ENSP00000501602.1:n.2943+1G>C
ENST00000675052.1:c.3285+1G>C	ENSP00000502664.1:n.3285+1G>C
ENST00000675078.1:c.3285+1G>C	ENSP00000501549.1:n.3285+1G>C
ENST00000675215.1:c.*2509+1G>C	ENSP00000502558.1:n.*2509+1G>C
ENST00000675233.1:n.5112+1G>C
ENST00000675321.1:c.3285+1G>C	ENSP00000502751.1:n.3285+1G>C
ENST00000675325.1:n.5242+1G>C
ENST00000675335.1:c.3316+1G>C	ENSP00000502182.1:n.3316+1G>C
ENST00000675400.1:n.5137+1G>C
ENST00000675406.1:c.3285+1G>C	ENSP00000501893.1:n.3285+1G>C
ENST00000675458.1:c.3378+1G>C	ENSP00000501754.1:n.3378+1G>C
ENST00000675507.1:n.5081+1G>C
ENST00000675535.1:c.*912+1G>C	ENSP00000501667.1:n.*912+1G>C
ENST00000675566.1:n.5143+1G>C
ENST00000675580.1:n.438+1G>C
ENST00000675602.1:n.6333+1G>C
ENST00000675647.1:n.4449+1G>C
ENST00000675711.1:c.3402+1G>C	ENSP00000502485.1:n.3402+1G>C
ENST00000675727.1:c.3285+1G>C	ENSP00000501722.1:n.3285+1G>C
ENST00000675748.1:n.4919+1G>C
ENST00000675765.1:c.*668+1G>C	ENSP00000502640.1:n.*668+1G>C
ENST00000675825.1:c.3285+1G>C	ENSP00000502632.1:n.3285+1G>C
ENST00000675877.1:n.3590+1G>C
ENST00000675893.1:c.*4354+1G>C	ENSP00000502001.1:n.*4354+1G>C
ENST00000675943.1:n.6900+1G>C
ENST00000675979.1:c.*2528+1G>C	ENSP00000502208.1:n.*2528+1G>C
ENST00000676044.1:c.*945+1G>C	ENSP00000502378.1:n.*945+1G>C
ENST00000676086.1:n.5070+1G>C
ENST00000676121.1:n.5113+1G>C
ENST00000676237.1:c.3186+1G>C	ENSP00000501828.1:n.3186+1G>C
ENST00000676416.1:c.2943+1G>C	ENSP00000501660.1:n.2943+1G>C
ENST00000676424.1:n.5081+1G>C
ENST00000676429.1:n.7754+1G>C
XM_005252285.2:c.2943+1G>C	XP_005252342.1:n.2943+1G>C
XM_011519136.1:c.3285+1G>C	XP_011517438.1:n.3285+1G>C
XM_011519136.2:c.3285+1G>C	XP_011517438.1:n.3285+1G>C
XM_011519137.1:c.2943+1G>C	XP_011517439.1:n.2943+1G>C
XR_929859.3:n.3674+1G>C