Canonical Allele Identifier: CA374411605

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641741T>G (hg19) ; chr9:g.108879461T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879461T>G , CM000671.2:g.108879461T>G	GRCh38
NC_000009.11:g.111641741T>G , CM000671.1:g.111641741T>G	GRCh37
NC_000009.10:g.110681562T>G	NCBI36
NG_008788.1:g.59868A>C , LRG_251:g.59868A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3557A>C MANE Select	ENSP00000363779.5:p.Asn1186Thr
ENST00000495759.6:c.*2167A>C	ENSP00000433514.2:n.*2167A>C
ENST00000674535.1:c.3557A>C	ENSP00000502142.1:p.Asn1186Thr
ENST00000674704.1:n.6642A>C
ENST00000674740.1:n.440A>C
ENST00000674836.1:n.4170A>C
ENST00000674890.1:c.*792A>C	ENSP00000501870.1:n.*792A>C
ENST00000674938.1:c.3215A>C	ENSP00000502427.1:p.Asn1072Thr
ENST00000674948.1:c.3215A>C	ENSP00000501602.1:p.Asn1072Thr
ENST00000675052.1:c.3557A>C	ENSP00000502664.1:p.Asn1186Thr
ENST00000675062.1:n.603A>C
ENST00000675078.1:c.3557A>C	ENSP00000501549.1:p.Asn1186Thr
ENST00000675215.1:c.*2781A>C	ENSP00000502558.1:n.*2781A>C
ENST00000675233.1:n.5384A>C
ENST00000675321.1:c.3460+591A>C	ENSP00000502751.1:n.3460+591A>C
ENST00000675325.1:n.5514A>C
ENST00000675335.1:c.3588A>C	ENSP00000502182.1:n.3588A>C
ENST00000675400.1:n.5409A>C
ENST00000675406.1:c.3557A>C	ENSP00000501893.1:p.Asn1186Thr
ENST00000675458.1:c.3650A>C	ENSP00000501754.1:n.3650A>C
ENST00000675507.1:n.5353A>C
ENST00000675535.1:c.*1184A>C	ENSP00000501667.1:n.*1184A>C
ENST00000675566.1:n.5415A>C
ENST00000675580.1:n.710A>C
ENST00000675602.1:n.6605A>C
ENST00000675647.1:n.4721A>C
ENST00000675711.1:c.3674A>C	ENSP00000502485.1:n.3674A>C
ENST00000675727.1:c.3557A>C	ENSP00000501722.1:p.Asn1186Thr
ENST00000675748.1:n.5191A>C
ENST00000675765.1:c.*940A>C	ENSP00000502640.1:n.*940A>C
ENST00000675825.1:c.3599A>C	ENSP00000502632.1:p.Asn1200Thr
ENST00000675877.1:n.5401A>C
ENST00000675893.1:c.*4626A>C	ENSP00000502001.1:n.*4626A>C
ENST00000675943.1:n.7172A>C
ENST00000675979.1:c.*2800A>C	ENSP00000502208.1:n.*2800A>C
ENST00000676044.1:c.*1217A>C	ENSP00000502378.1:n.*1217A>C
ENST00000676086.1:n.5342A>C
ENST00000676121.1:n.5385A>C
ENST00000676162.1:n.286A>C
ENST00000676237.1:c.3500A>C	ENSP00000501828.1:p.Asn1167Thr
ENST00000676416.1:c.3257A>C	ENSP00000501660.1:p.Asn1086Thr
ENST00000676424.1:n.5395A>C
ENST00000676429.1:n.8026A>C
ENST00000374647.9:c.3557A>C	ENSP00000363779.5:p.Asn1186Thr
ENST00000467959.1:n.437A>C
ENST00000495759.5:c.697A>C
ENST00000537196.1:c.2510A>C	ENSP00000439367.1:p.Asn837Thr
NM_003640.3:c.3557A>C , LRG_251t1:c.3557A>C	NP_003631.2:p.Asn1186Thr
XM_005252285.2:c.3215A>C	XP_005252342.1:p.Asn1072Thr
XM_011519136.1:c.3599A>C	XP_011517438.1:p.Asn1200Thr
XM_011519137.1:c.3257A>C	XP_011517439.1:p.Asn1086Thr
NM_001318360.1:c.3215A>C	NP_001305289.1:p.Asn1072Thr
NM_001330749.1:c.2510A>C	NP_001317678.1:p.Asn837Thr
NM_003640.4:c.3557A>C	NP_003631.2:p.Asn1186Thr
XM_011519136.2:c.3599A>C	XP_011517438.1:p.Asn1200Thr
XR_929859.3:n.3946A>C
NM_003640.5:c.3557A>C MANE Select	NP_003631.2:p.Asn1186Thr
NM_001318360.2:c.3215A>C	NP_001305289.1:p.Asn1072Thr
NM_001330749.2:c.2510A>C	NP_001317678.1:p.Asn837Thr