Canonical Allele Identifier: CA2691095986

Gene: ELP1

Linked Data

• gnomAD v4: 9-108900228-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108900228G>T , CM000671.2:g.108900228G>T	GRCh38
NC_000009.11:g.111662508G>T , CM000671.1:g.111662508G>T	GRCh37
NC_000009.10:g.110702329G>T	NCBI36
NG_008788.1:g.39101C>A , LRG_251:g.39101C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2130+32C>A MANE Select	ENSP00000363779.5:n.2130+32C>A
ENST00000495759.6:c.*740+32C>A	ENSP00000433514.2:n.*740+32C>A
ENST00000674535.1:c.2130+32C>A	ENSP00000502142.1:n.2130+32C>A
ENST00000674704.1:n.3937+32C>A
ENST00000674836.1:n.2435+32C>A
ENST00000674890.1:c.2130+32C>A	ENSP00000501870.1:n.2130+32C>A
ENST00000674938.1:c.1788+32C>A	ENSP00000502427.1:n.1788+32C>A
ENST00000674948.1:c.1788+32C>A	ENSP00000501602.1:n.1788+32C>A
ENST00000675052.1:c.2130+32C>A	ENSP00000502664.1:n.2130+32C>A
ENST00000675078.1:c.2130+32C>A	ENSP00000501549.1:n.2130+32C>A
ENST00000675215.1:c.*1354+32C>A	ENSP00000502558.1:n.*1354+32C>A
ENST00000675233.1:n.3957+32C>A
ENST00000675321.1:c.2130+32C>A	ENSP00000502751.1:n.2130+32C>A
ENST00000675325.1:n.3926+32C>A
ENST00000675335.1:c.2161+32C>A	ENSP00000502182.1:n.2161+32C>A
ENST00000675400.1:n.3803+32C>A
ENST00000675406.1:c.2130+32C>A	ENSP00000501893.1:n.2130+32C>A
ENST00000675458.1:c.2223+32C>A	ENSP00000501754.1:n.2223+32C>A
ENST00000675507.1:n.3926+32C>A
ENST00000675535.1:c.2130+32C>A	ENSP00000501667.1:n.2130+32C>A
ENST00000675566.1:n.3926+32C>A
ENST00000675602.1:n.5178+32C>A
ENST00000675647.1:n.2435+32C>A
ENST00000675711.1:c.2130+32C>A	ENSP00000502485.1:n.2130+32C>A
ENST00000675727.1:c.2130+32C>A	ENSP00000501722.1:n.2130+32C>A
ENST00000675748.1:n.3764+32C>A
ENST00000675765.1:c.2130+32C>A	ENSP00000502640.1:n.2130+32C>A
ENST00000675825.1:c.2130+32C>A	ENSP00000502632.1:n.2130+32C>A
ENST00000675877.1:n.2435+32C>A
ENST00000675893.1:c.*3199+32C>A	ENSP00000502001.1:n.*3199+32C>A
ENST00000675943.1:n.5745+32C>A
ENST00000675979.1:c.*1373+32C>A	ENSP00000502208.1:n.*1373+32C>A
ENST00000676044.1:c.2130+32C>A	ENSP00000502378.1:n.2130+32C>A
ENST00000676086.1:n.3915+32C>A
ENST00000676121.1:n.3958+32C>A
ENST00000676237.1:c.2031+32C>A	ENSP00000501828.1:n.2031+32C>A
ENST00000676416.1:c.1788+32C>A	ENSP00000501660.1:n.1788+32C>A
ENST00000676424.1:n.3926+32C>A
ENST00000676429.1:n.6599+32C>A
ENST00000374647.9:c.2130+32C>A	ENSP00000363779.5:n.2130+32C>A
ENST00000537196.1:c.1083+32C>A	ENSP00000439367.1:n.1083+32C>A
NM_003640.3:c.2130+32C>A , LRG_251t1:c.2130+32C>A	NP_003631.2:n.2130+32C>A
XM_005252285.2:c.1788+32C>A	XP_005252342.1:n.1788+32C>A
XM_011519136.1:c.2130+32C>A	XP_011517438.1:n.2130+32C>A
XM_011519137.1:c.1788+32C>A	XP_011517439.1:n.1788+32C>A
XR_929859.1:n.2446+32C>A
NM_001318360.1:c.1788+32C>A	NP_001305289.1:n.1788+32C>A
NM_001330749.1:c.1083+32C>A	NP_001317678.1:n.1083+32C>A
NM_003640.4:c.2130+32C>A	NP_003631.2:n.2130+32C>A
XM_011519136.2:c.2130+32C>A	XP_011517438.1:n.2130+32C>A
XR_929859.3:n.2457+32C>A
NM_003640.5:c.2130+32C>A MANE Select	NP_003631.2:n.2130+32C>A
NM_001318360.2:c.1788+32C>A	NP_001305289.1:n.1788+32C>A
NM_001330749.2:c.1083+32C>A	NP_001317678.1:n.1083+32C>A