Canonical Allele Identifier: CA374414877

Gene: ELP1

Linked Data

• gnomAD v4: 9-108889352-C-T
• MyVariant Identifiers: chr9:g.111651632C>T (hg19) ; chr9:g.108889352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889352C>T , CM000671.2:g.108889352C>T	GRCh38
NC_000009.11:g.111651632C>T , CM000671.1:g.111651632C>T	GRCh37
NC_000009.10:g.110691453C>T	NCBI36
NG_008788.1:g.49977G>A , LRG_251:g.49977G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3202G>A MANE Select	ENSP00000363779.5:p.Val1068Ile
ENST00000495759.6:c.*1812G>A	ENSP00000433514.2:n.*1812G>A
ENST00000674535.1:c.3202G>A	ENSP00000502142.1:p.Val1068Ile
ENST00000674704.1:n.6287G>A
ENST00000674836.1:n.3815G>A
ENST00000674890.1:c.*437G>A	ENSP00000501870.1:n.*437G>A
ENST00000674938.1:c.2860G>A	ENSP00000502427.1:p.Val954Ile
ENST00000674948.1:c.2860G>A	ENSP00000501602.1:p.Val954Ile
ENST00000675052.1:c.3202G>A	ENSP00000502664.1:p.Val1068Ile
ENST00000675078.1:c.3202G>A	ENSP00000501549.1:p.Val1068Ile
ENST00000675215.1:c.*2426G>A	ENSP00000502558.1:n.*2426G>A
ENST00000675233.1:n.5029G>A
ENST00000675321.1:c.3202G>A	ENSP00000502751.1:p.Val1068Ile
ENST00000675325.1:n.5159G>A
ENST00000675335.1:c.3233G>A	ENSP00000502182.1:n.3233G>A
ENST00000675400.1:n.4937G>A
ENST00000675406.1:c.3202G>A	ENSP00000501893.1:p.Val1068Ile
ENST00000675458.1:c.3295G>A	ENSP00000501754.1:n.3295G>A
ENST00000675507.1:n.4998G>A
ENST00000675535.1:c.*829G>A	ENSP00000501667.1:n.*829G>A
ENST00000675566.1:n.5060G>A
ENST00000675602.1:n.6250G>A
ENST00000675647.1:n.4366G>A
ENST00000675711.1:c.3202G>A	ENSP00000502485.1:p.Val1068Ile
ENST00000675727.1:c.3202G>A	ENSP00000501722.1:p.Val1068Ile
ENST00000675748.1:n.4836G>A
ENST00000675765.1:c.*585G>A	ENSP00000502640.1:n.*585G>A
ENST00000675825.1:c.3202G>A	ENSP00000502632.1:p.Val1068Ile
ENST00000675877.1:n.3507G>A
ENST00000675893.1:c.*4271G>A	ENSP00000502001.1:n.*4271G>A
ENST00000675943.1:n.6817G>A
ENST00000675979.1:c.*2445G>A	ENSP00000502208.1:n.*2445G>A
ENST00000676044.1:c.*862G>A	ENSP00000502378.1:n.*862G>A
ENST00000676086.1:n.4987G>A
ENST00000676121.1:n.5030G>A
ENST00000676237.1:c.3103G>A	ENSP00000501828.1:p.Val1035Ile
ENST00000676416.1:c.2860G>A	ENSP00000501660.1:p.Val954Ile
ENST00000676424.1:n.4998G>A
ENST00000676429.1:n.7671G>A
ENST00000374647.9:c.3202G>A	ENSP00000363779.5:p.Val1068Ile
ENST00000467959.1:n.82G>A
ENST00000495759.5:c.342G>A
ENST00000537196.1:c.2155G>A	ENSP00000439367.1:p.Val719Ile
NM_003640.3:c.3202G>A , LRG_251t1:c.3202G>A	NP_003631.2:p.Val1068Ile
XM_005252285.2:c.2860G>A	XP_005252342.1:p.Val954Ile
XM_011519136.1:c.3202G>A	XP_011517438.1:p.Val1068Ile
XM_011519137.1:c.2860G>A	XP_011517439.1:p.Val954Ile
NM_001318360.1:c.2860G>A	NP_001305289.1:p.Val954Ile
NM_001330749.1:c.2155G>A	NP_001317678.1:p.Val719Ile
NM_003640.4:c.3202G>A	NP_003631.2:p.Val1068Ile
XM_011519136.2:c.3202G>A	XP_011517438.1:p.Val1068Ile
XR_929859.3:n.3591G>A
NM_003640.5:c.3202G>A MANE Select	NP_003631.2:p.Val1068Ile
NM_001318360.2:c.2860G>A	NP_001305289.1:p.Val954Ile
NM_001330749.2:c.2155G>A	NP_001317678.1:p.Val719Ile