Canonical Allele Identifier: CA374418896

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111656274C>T (hg19) ; chr9:g.108893994C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893994C>T , CM000671.2:g.108893994C>T	GRCh38
NC_000009.11:g.111656274C>T , CM000671.1:g.111656274C>T	GRCh37
NC_000009.10:g.110696095C>T	NCBI36
NG_008788.1:g.45335G>A , LRG_251:g.45335G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2809G>A MANE Select	ENSP00000363779.5:p.Asp937Asn
ENST00000495759.6:c.*1419G>A	ENSP00000433514.2:n.*1419G>A
ENST00000674535.1:c.2809G>A	ENSP00000502142.1:p.Asp937Asn
ENST00000674704.1:n.5894G>A
ENST00000674836.1:n.3422G>A
ENST00000674890.1:c.*44G>A	ENSP00000501870.1:n.*44G>A
ENST00000674938.1:c.2467G>A	ENSP00000502427.1:p.Asp823Asn
ENST00000674948.1:c.2467G>A	ENSP00000501602.1:p.Asp823Asn
ENST00000675052.1:c.2809G>A	ENSP00000502664.1:p.Asp937Asn
ENST00000675078.1:c.2809G>A	ENSP00000501549.1:p.Asp937Asn
ENST00000675215.1:c.*2033G>A	ENSP00000502558.1:n.*2033G>A
ENST00000675233.1:n.4636G>A
ENST00000675321.1:c.2809G>A	ENSP00000502751.1:p.Asp937Asn
ENST00000675325.1:n.4766G>A
ENST00000675335.1:c.2840G>A	ENSP00000502182.1:n.2840G>A
ENST00000675400.1:n.4544G>A
ENST00000675406.1:c.2809G>A	ENSP00000501893.1:p.Asp937Asn
ENST00000675458.1:c.2902G>A	ENSP00000501754.1:n.2902G>A
ENST00000675507.1:n.4605G>A
ENST00000675535.1:c.*436G>A	ENSP00000501667.1:n.*436G>A
ENST00000675566.1:n.4667G>A
ENST00000675602.1:n.5857G>A
ENST00000675647.1:n.3114G>A
ENST00000675711.1:c.2809G>A	ENSP00000502485.1:p.Asp937Asn
ENST00000675727.1:c.2809G>A	ENSP00000501722.1:p.Asp937Asn
ENST00000675748.1:n.4443G>A
ENST00000675765.1:c.*192G>A	ENSP00000502640.1:n.*192G>A
ENST00000675825.1:c.2809G>A	ENSP00000502632.1:p.Asp937Asn
ENST00000675877.1:n.3114G>A
ENST00000675893.1:c.*3878G>A	ENSP00000502001.1:n.*3878G>A
ENST00000675943.1:n.6424G>A
ENST00000675979.1:c.*2052G>A	ENSP00000502208.1:n.*2052G>A
ENST00000676044.1:c.*469G>A	ENSP00000502378.1:n.*469G>A
ENST00000676086.1:n.4594G>A
ENST00000676121.1:n.4637G>A
ENST00000676237.1:c.2710G>A	ENSP00000501828.1:p.Asp904Asn
ENST00000676416.1:c.2467G>A	ENSP00000501660.1:p.Asp823Asn
ENST00000676424.1:n.4605G>A
ENST00000676429.1:n.7278G>A
ENST00000374647.9:c.2809G>A	ENSP00000363779.5:p.Asp937Asn
ENST00000537196.1:c.1762G>A	ENSP00000439367.1:p.Asp588Asn
NM_003640.3:c.2809G>A , LRG_251t1:c.2809G>A	NP_003631.2:p.Asp937Asn
XM_005252285.2:c.2467G>A	XP_005252342.1:p.Asp823Asn
XM_011519136.1:c.2809G>A	XP_011517438.1:p.Asp937Asn
XM_011519137.1:c.2467G>A	XP_011517439.1:p.Asp823Asn
XR_929859.1:n.3187G>A
NM_001318360.1:c.2467G>A	NP_001305289.1:p.Asp823Asn
NM_001330749.1:c.1762G>A	NP_001317678.1:p.Asp588Asn
NM_003640.4:c.2809G>A	NP_003631.2:p.Asp937Asn
XM_011519136.2:c.2809G>A	XP_011517438.1:p.Asp937Asn
XR_929859.3:n.3198G>A
NM_003640.5:c.2809G>A MANE Select	NP_003631.2:p.Asp937Asn
NM_001318360.2:c.2467G>A	NP_001305289.1:p.Asp823Asn
NM_001330749.2:c.1762G>A	NP_001317678.1:p.Asp588Asn