Canonical Allele Identifier: CA2691113231

Gene: ELP1

Linked Data

• gnomAD v4: 9-108893850-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893850C>G , CM000671.2:g.108893850C>G	GRCh38
NC_000009.11:g.111656130C>G , CM000671.1:g.111656130C>G	GRCh37
NC_000009.10:g.110695951C>G	NCBI36
NG_008788.1:g.45479G>C , LRG_251:g.45479G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2860+93G>C MANE Select	ENSP00000363779.5:n.2860+93G>C
ENST00000495759.6:c.*1470+93G>C	ENSP00000433514.2:n.*1470+93G>C
ENST00000674535.1:c.2860+93G>C	ENSP00000502142.1:n.2860+93G>C
ENST00000674704.1:n.5945+93G>C
ENST00000674836.1:n.3473+93G>C
ENST00000674890.1:c.*95+93G>C	ENSP00000501870.1:n.*95+93G>C
ENST00000674938.1:c.2518+93G>C	ENSP00000502427.1:n.2518+93G>C
ENST00000674948.1:c.2518+93G>C	ENSP00000501602.1:n.2518+93G>C
ENST00000675052.1:c.2860+93G>C	ENSP00000502664.1:n.2860+93G>C
ENST00000675078.1:c.2860+93G>C	ENSP00000501549.1:n.2860+93G>C
ENST00000675215.1:c.*2084+93G>C	ENSP00000502558.1:n.*2084+93G>C
ENST00000675233.1:n.4687+93G>C
ENST00000675321.1:c.2860+93G>C	ENSP00000502751.1:n.2860+93G>C
ENST00000675325.1:n.4817+93G>C
ENST00000675335.1:c.2891+93G>C	ENSP00000502182.1:n.2891+93G>C
ENST00000675400.1:n.4595+93G>C
ENST00000675406.1:c.2860+93G>C	ENSP00000501893.1:n.2860+93G>C
ENST00000675458.1:c.2953+93G>C	ENSP00000501754.1:n.2953+93G>C
ENST00000675507.1:n.4656+93G>C
ENST00000675535.1:c.*487+93G>C	ENSP00000501667.1:n.*487+93G>C
ENST00000675566.1:n.4718+93G>C
ENST00000675602.1:n.5908+93G>C
ENST00000675647.1:n.3258G>C
ENST00000675711.1:c.2860+93G>C	ENSP00000502485.1:n.2860+93G>C
ENST00000675727.1:c.2860+93G>C	ENSP00000501722.1:n.2860+93G>C
ENST00000675748.1:n.4494+93G>C
ENST00000675765.1:c.*243+93G>C	ENSP00000502640.1:n.*243+93G>C
ENST00000675825.1:c.2860+93G>C	ENSP00000502632.1:n.2860+93G>C
ENST00000675877.1:n.3165+93G>C
ENST00000675893.1:c.*3929+93G>C	ENSP00000502001.1:n.*3929+93G>C
ENST00000675943.1:n.6475+93G>C
ENST00000675979.1:c.*2103+93G>C	ENSP00000502208.1:n.*2103+93G>C
ENST00000676044.1:c.*520+93G>C	ENSP00000502378.1:n.*520+93G>C
ENST00000676086.1:n.4645+93G>C
ENST00000676121.1:n.4688+93G>C
ENST00000676237.1:c.2761+93G>C	ENSP00000501828.1:n.2761+93G>C
ENST00000676416.1:c.2518+93G>C	ENSP00000501660.1:n.2518+93G>C
ENST00000676424.1:n.4656+93G>C
ENST00000676429.1:n.7329+93G>C
ENST00000374647.9:c.2860+93G>C	ENSP00000363779.5:n.2860+93G>C
ENST00000537196.1:c.1813+93G>C	ENSP00000439367.1:n.1813+93G>C
NM_003640.3:c.2860+93G>C , LRG_251t1:c.2860+93G>C	NP_003631.2:n.2860+93G>C
XM_005252285.2:c.2518+93G>C	XP_005252342.1:n.2518+93G>C
XM_011519136.1:c.2860+93G>C	XP_011517438.1:n.2860+93G>C
XM_011519137.1:c.2518+93G>C	XP_011517439.1:n.2518+93G>C
XR_929859.1:n.3238+93G>C
NM_001318360.1:c.2518+93G>C	NP_001305289.1:n.2518+93G>C
NM_001330749.1:c.1813+93G>C	NP_001317678.1:n.1813+93G>C
NM_003640.4:c.2860+93G>C	NP_003631.2:n.2860+93G>C
XM_011519136.2:c.2860+93G>C	XP_011517438.1:n.2860+93G>C
XR_929859.3:n.3249+93G>C
NM_003640.5:c.2860+93G>C MANE Select	NP_003631.2:n.2860+93G>C
NM_001318360.2:c.2518+93G>C	NP_001305289.1:n.2518+93G>C
NM_001330749.2:c.1813+93G>C	NP_001317678.1:n.1813+93G>C