Canonical Allele Identifier: CA374414873

Gene: ELP1

Linked Data

• gnomAD v4: 9-108889351-A-C
• MyVariant Identifiers: chr9:g.111651631A>C (hg19) ; chr9:g.108889351A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108889351A>C , CM000671.2:g.108889351A>C	GRCh38
NC_000009.11:g.111651631A>C , CM000671.1:g.111651631A>C	GRCh37
NC_000009.10:g.110691452A>C	NCBI36
NG_008788.1:g.49978T>G , LRG_251:g.49978T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3203T>G MANE Select	ENSP00000363779.5:p.Val1068Gly
ENST00000495759.6:c.*1813T>G	ENSP00000433514.2:n.*1813T>G
ENST00000674535.1:c.3203T>G	ENSP00000502142.1:p.Val1068Gly
ENST00000674704.1:n.6288T>G
ENST00000674836.1:n.3816T>G
ENST00000674890.1:c.*438T>G	ENSP00000501870.1:n.*438T>G
ENST00000674938.1:c.2861T>G	ENSP00000502427.1:p.Val954Gly
ENST00000674948.1:c.2861T>G	ENSP00000501602.1:p.Val954Gly
ENST00000675052.1:c.3203T>G	ENSP00000502664.1:p.Val1068Gly
ENST00000675078.1:c.3203T>G	ENSP00000501549.1:p.Val1068Gly
ENST00000675215.1:c.*2427T>G	ENSP00000502558.1:n.*2427T>G
ENST00000675233.1:n.5030T>G
ENST00000675321.1:c.3203T>G	ENSP00000502751.1:p.Val1068Gly
ENST00000675325.1:n.5160T>G
ENST00000675335.1:c.3234T>G	ENSP00000502182.1:n.3234T>G
ENST00000675400.1:n.4938T>G
ENST00000675406.1:c.3203T>G	ENSP00000501893.1:p.Val1068Gly
ENST00000675458.1:c.3296T>G	ENSP00000501754.1:n.3296T>G
ENST00000675507.1:n.4999T>G
ENST00000675535.1:c.*830T>G	ENSP00000501667.1:n.*830T>G
ENST00000675566.1:n.5061T>G
ENST00000675602.1:n.6251T>G
ENST00000675647.1:n.4367T>G
ENST00000675711.1:c.3203T>G	ENSP00000502485.1:p.Val1068Gly
ENST00000675727.1:c.3203T>G	ENSP00000501722.1:p.Val1068Gly
ENST00000675748.1:n.4837T>G
ENST00000675765.1:c.*586T>G	ENSP00000502640.1:n.*586T>G
ENST00000675825.1:c.3203T>G	ENSP00000502632.1:p.Val1068Gly
ENST00000675877.1:n.3508T>G
ENST00000675893.1:c.*4272T>G	ENSP00000502001.1:n.*4272T>G
ENST00000675943.1:n.6818T>G
ENST00000675979.1:c.*2446T>G	ENSP00000502208.1:n.*2446T>G
ENST00000676044.1:c.*863T>G	ENSP00000502378.1:n.*863T>G
ENST00000676086.1:n.4988T>G
ENST00000676121.1:n.5031T>G
ENST00000676237.1:c.3104T>G	ENSP00000501828.1:p.Val1035Gly
ENST00000676416.1:c.2861T>G	ENSP00000501660.1:p.Val954Gly
ENST00000676424.1:n.4999T>G
ENST00000676429.1:n.7672T>G
ENST00000374647.9:c.3203T>G	ENSP00000363779.5:p.Val1068Gly
ENST00000467959.1:n.83T>G
ENST00000495759.5:c.343T>G
ENST00000537196.1:c.2156T>G	ENSP00000439367.1:p.Val719Gly
NM_003640.3:c.3203T>G , LRG_251t1:c.3203T>G	NP_003631.2:p.Val1068Gly
XM_005252285.2:c.2861T>G	XP_005252342.1:p.Val954Gly
XM_011519136.1:c.3203T>G	XP_011517438.1:p.Val1068Gly
XM_011519137.1:c.2861T>G	XP_011517439.1:p.Val954Gly
NM_001318360.1:c.2861T>G	NP_001305289.1:p.Val954Gly
NM_001330749.1:c.2156T>G	NP_001317678.1:p.Val719Gly
NM_003640.4:c.3203T>G	NP_003631.2:p.Val1068Gly
XM_011519136.2:c.3203T>G	XP_011517438.1:p.Val1068Gly
XR_929859.3:n.3592T>G
NM_003640.5:c.3203T>G MANE Select	NP_003631.2:p.Val1068Gly
NM_001318360.2:c.2861T>G	NP_001305289.1:p.Val954Gly
NM_001330749.2:c.2156T>G	NP_001317678.1:p.Val719Gly