Canonical Allele Identifier: CA374412008

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641835C>T (hg19) ; chr9:g.108879555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879555C>T , CM000671.2:g.108879555C>T	GRCh38
NC_000009.11:g.111641835C>T , CM000671.1:g.111641835C>T	GRCh37
NC_000009.10:g.110681656C>T	NCBI36
NG_008788.1:g.59774G>A , LRG_251:g.59774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3463G>A MANE Select	ENSP00000363779.5:p.Asp1155Asn
ENST00000495759.6:c.*2073G>A	ENSP00000433514.2:n.*2073G>A
ENST00000674535.1:c.3463G>A	ENSP00000502142.1:p.Asp1155Asn
ENST00000674704.1:n.6548G>A
ENST00000674740.1:n.346G>A
ENST00000674836.1:n.4076G>A
ENST00000674890.1:c.*698G>A	ENSP00000501870.1:n.*698G>A
ENST00000674938.1:c.3121G>A	ENSP00000502427.1:p.Asp1041Asn
ENST00000674948.1:c.3121G>A	ENSP00000501602.1:p.Asp1041Asn
ENST00000675052.1:c.3463G>A	ENSP00000502664.1:p.Asp1155Asn
ENST00000675062.1:n.509G>A
ENST00000675078.1:c.3463G>A	ENSP00000501549.1:p.Asp1155Asn
ENST00000675215.1:c.*2687G>A	ENSP00000502558.1:n.*2687G>A
ENST00000675233.1:n.5290G>A
ENST00000675321.1:c.3460+497G>A	ENSP00000502751.1:n.3460+497G>A
ENST00000675325.1:n.5420G>A
ENST00000675335.1:c.3494G>A	ENSP00000502182.1:n.3494G>A
ENST00000675400.1:n.5315G>A
ENST00000675406.1:c.3463G>A	ENSP00000501893.1:p.Asp1155Asn
ENST00000675458.1:c.3556G>A	ENSP00000501754.1:n.3556G>A
ENST00000675507.1:n.5259G>A
ENST00000675535.1:c.*1090G>A	ENSP00000501667.1:n.*1090G>A
ENST00000675566.1:n.5321G>A
ENST00000675580.1:n.616G>A
ENST00000675602.1:n.6511G>A
ENST00000675647.1:n.4627G>A
ENST00000675711.1:c.3580G>A	ENSP00000502485.1:n.3580G>A
ENST00000675727.1:c.3463G>A	ENSP00000501722.1:p.Asp1155Asn
ENST00000675748.1:n.5097G>A
ENST00000675765.1:c.*846G>A	ENSP00000502640.1:n.*846G>A
ENST00000675825.1:c.3505G>A	ENSP00000502632.1:p.Asp1169Asn
ENST00000675877.1:n.5307G>A
ENST00000675893.1:c.*4532G>A	ENSP00000502001.1:n.*4532G>A
ENST00000675943.1:n.7078G>A
ENST00000675979.1:c.*2706G>A	ENSP00000502208.1:n.*2706G>A
ENST00000676044.1:c.*1123G>A	ENSP00000502378.1:n.*1123G>A
ENST00000676086.1:n.5248G>A
ENST00000676121.1:n.5291G>A
ENST00000676162.1:n.192G>A
ENST00000676237.1:c.3406G>A	ENSP00000501828.1:p.Asp1136Asn
ENST00000676416.1:c.3163G>A	ENSP00000501660.1:p.Asp1055Asn
ENST00000676424.1:n.5301G>A
ENST00000676429.1:n.7932G>A
ENST00000374647.9:c.3463G>A	ENSP00000363779.5:p.Asp1155Asn
ENST00000467959.1:n.343G>A
ENST00000495759.5:c.603G>A
ENST00000537196.1:c.2416G>A	ENSP00000439367.1:p.Asp806Asn
NM_003640.3:c.3463G>A , LRG_251t1:c.3463G>A	NP_003631.2:p.Asp1155Asn
XM_005252285.2:c.3121G>A	XP_005252342.1:p.Asp1041Asn
XM_011519136.1:c.3505G>A	XP_011517438.1:p.Asp1169Asn
XM_011519137.1:c.3163G>A	XP_011517439.1:p.Asp1055Asn
NM_001318360.1:c.3121G>A	NP_001305289.1:p.Asp1041Asn
NM_001330749.1:c.2416G>A	NP_001317678.1:p.Asp806Asn
NM_003640.4:c.3463G>A	NP_003631.2:p.Asp1155Asn
XM_011519136.2:c.3505G>A	XP_011517438.1:p.Asp1169Asn
XR_929859.3:n.3852G>A
NM_003640.5:c.3463G>A MANE Select	NP_003631.2:p.Asp1155Asn
NM_001318360.2:c.3121G>A	NP_001305289.1:p.Asp1041Asn
NM_001330749.2:c.2416G>A	NP_001317678.1:p.Asp806Asn