Canonical Allele Identifier: CA2691113250

Gene: ELP1

Linked Data

• gnomAD v4: 9-108893888-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893888C>A , CM000671.2:g.108893888C>A	GRCh38
NC_000009.11:g.111656168C>A , CM000671.1:g.111656168C>A	GRCh37
NC_000009.10:g.110695989C>A	NCBI36
NG_008788.1:g.45441G>T , LRG_251:g.45441G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2860+55G>T MANE Select	ENSP00000363779.5:n.2860+55G>T
ENST00000495759.6:c.*1470+55G>T	ENSP00000433514.2:n.*1470+55G>T
ENST00000674535.1:c.2860+55G>T	ENSP00000502142.1:n.2860+55G>T
ENST00000674704.1:n.5945+55G>T
ENST00000674836.1:n.3473+55G>T
ENST00000674890.1:c.*95+55G>T	ENSP00000501870.1:n.*95+55G>T
ENST00000674938.1:c.2518+55G>T	ENSP00000502427.1:n.2518+55G>T
ENST00000674948.1:c.2518+55G>T	ENSP00000501602.1:n.2518+55G>T
ENST00000675052.1:c.2860+55G>T	ENSP00000502664.1:n.2860+55G>T
ENST00000675078.1:c.2860+55G>T	ENSP00000501549.1:n.2860+55G>T
ENST00000675215.1:c.*2084+55G>T	ENSP00000502558.1:n.*2084+55G>T
ENST00000675233.1:n.4687+55G>T
ENST00000675321.1:c.2860+55G>T	ENSP00000502751.1:n.2860+55G>T
ENST00000675325.1:n.4817+55G>T
ENST00000675335.1:c.2891+55G>T	ENSP00000502182.1:n.2891+55G>T
ENST00000675400.1:n.4595+55G>T
ENST00000675406.1:c.2860+55G>T	ENSP00000501893.1:n.2860+55G>T
ENST00000675458.1:c.2953+55G>T	ENSP00000501754.1:n.2953+55G>T
ENST00000675507.1:n.4656+55G>T
ENST00000675535.1:c.*487+55G>T	ENSP00000501667.1:n.*487+55G>T
ENST00000675566.1:n.4718+55G>T
ENST00000675602.1:n.5908+55G>T
ENST00000675647.1:n.3220G>T
ENST00000675711.1:c.2860+55G>T	ENSP00000502485.1:n.2860+55G>T
ENST00000675727.1:c.2860+55G>T	ENSP00000501722.1:n.2860+55G>T
ENST00000675748.1:n.4494+55G>T
ENST00000675765.1:c.*243+55G>T	ENSP00000502640.1:n.*243+55G>T
ENST00000675825.1:c.2860+55G>T	ENSP00000502632.1:n.2860+55G>T
ENST00000675877.1:n.3165+55G>T
ENST00000675893.1:c.*3929+55G>T	ENSP00000502001.1:n.*3929+55G>T
ENST00000675943.1:n.6475+55G>T
ENST00000675979.1:c.*2103+55G>T	ENSP00000502208.1:n.*2103+55G>T
ENST00000676044.1:c.*520+55G>T	ENSP00000502378.1:n.*520+55G>T
ENST00000676086.1:n.4645+55G>T
ENST00000676121.1:n.4688+55G>T
ENST00000676237.1:c.2761+55G>T	ENSP00000501828.1:n.2761+55G>T
ENST00000676416.1:c.2518+55G>T	ENSP00000501660.1:n.2518+55G>T
ENST00000676424.1:n.4656+55G>T
ENST00000676429.1:n.7329+55G>T
ENST00000374647.9:c.2860+55G>T	ENSP00000363779.5:n.2860+55G>T
ENST00000537196.1:c.1813+55G>T	ENSP00000439367.1:n.1813+55G>T
NM_003640.3:c.2860+55G>T , LRG_251t1:c.2860+55G>T	NP_003631.2:n.2860+55G>T
XM_005252285.2:c.2518+55G>T	XP_005252342.1:n.2518+55G>T
XM_011519136.1:c.2860+55G>T	XP_011517438.1:n.2860+55G>T
XM_011519137.1:c.2518+55G>T	XP_011517439.1:n.2518+55G>T
XR_929859.1:n.3238+55G>T
NM_001318360.1:c.2518+55G>T	NP_001305289.1:n.2518+55G>T
NM_001330749.1:c.1813+55G>T	NP_001317678.1:n.1813+55G>T
NM_003640.4:c.2860+55G>T	NP_003631.2:n.2860+55G>T
XM_011519136.2:c.2860+55G>T	XP_011517438.1:n.2860+55G>T
XR_929859.3:n.3249+55G>T
NM_003640.5:c.2860+55G>T MANE Select	NP_003631.2:n.2860+55G>T
NM_001318360.2:c.2518+55G>T	NP_001305289.1:n.2518+55G>T
NM_001330749.2:c.1813+55G>T	NP_001317678.1:n.1813+55G>T