Canonical Allele Identifier: CA5174531

Gene: ELP1

Linked Data

• ClinVar Variation Id: 970440
• ClinVar RCV Id: RCV001246011 ; RCV001835255 ; RCV004034846
• dbSNP Id: rs199617267
• ExAC: 9:111656276 A / G
• gnomAD v2: 9-111656276-A-G
• gnomAD v4: 9-108893996-A-G
• MyVariant Identifiers: chr9:g.111656276A>G (hg19) ; chr9:g.108893996A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893996A>G , CM000671.2:g.108893996A>G	GRCh38
NC_000009.11:g.111656276A>G , CM000671.1:g.111656276A>G	GRCh37
NC_000009.10:g.110696097A>G	NCBI36
NG_008788.1:g.45333T>C , LRG_251:g.45333T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2807T>C MANE Select	ENSP00000363779.5:p.Ile936Thr
ENST00000495759.6:c.*1417T>C	ENSP00000433514.2:n.*1417T>C
ENST00000674535.1:c.2807T>C	ENSP00000502142.1:p.Ile936Thr
ENST00000674704.1:n.5892T>C
ENST00000674836.1:n.3420T>C
ENST00000674890.1:c.*42T>C	ENSP00000501870.1:n.*42T>C
ENST00000674938.1:c.2465T>C	ENSP00000502427.1:p.Ile822Thr
ENST00000674948.1:c.2465T>C	ENSP00000501602.1:p.Ile822Thr
ENST00000675052.1:c.2807T>C	ENSP00000502664.1:p.Ile936Thr
ENST00000675078.1:c.2807T>C	ENSP00000501549.1:p.Ile936Thr
ENST00000675215.1:c.*2031T>C	ENSP00000502558.1:n.*2031T>C
ENST00000675233.1:n.4634T>C
ENST00000675321.1:c.2807T>C	ENSP00000502751.1:p.Ile936Thr
ENST00000675325.1:n.4764T>C
ENST00000675335.1:c.2838T>C	ENSP00000502182.1:n.2838T>C
ENST00000675400.1:n.4542T>C
ENST00000675406.1:c.2807T>C	ENSP00000501893.1:p.Ile936Thr
ENST00000675458.1:c.2900T>C	ENSP00000501754.1:n.2900T>C
ENST00000675507.1:n.4603T>C
ENST00000675535.1:c.*434T>C	ENSP00000501667.1:n.*434T>C
ENST00000675566.1:n.4665T>C
ENST00000675602.1:n.5855T>C
ENST00000675647.1:n.3112T>C
ENST00000675711.1:c.2807T>C	ENSP00000502485.1:p.Ile936Thr
ENST00000675727.1:c.2807T>C	ENSP00000501722.1:p.Ile936Thr
ENST00000675748.1:n.4441T>C
ENST00000675765.1:c.*190T>C	ENSP00000502640.1:n.*190T>C
ENST00000675825.1:c.2807T>C	ENSP00000502632.1:p.Ile936Thr
ENST00000675877.1:n.3112T>C
ENST00000675893.1:c.*3876T>C	ENSP00000502001.1:n.*3876T>C
ENST00000675943.1:n.6422T>C
ENST00000675979.1:c.*2050T>C	ENSP00000502208.1:n.*2050T>C
ENST00000676044.1:c.*467T>C	ENSP00000502378.1:n.*467T>C
ENST00000676086.1:n.4592T>C
ENST00000676121.1:n.4635T>C
ENST00000676237.1:c.2708T>C	ENSP00000501828.1:p.Ile903Thr
ENST00000676416.1:c.2465T>C	ENSP00000501660.1:p.Ile822Thr
ENST00000676424.1:n.4603T>C
ENST00000676429.1:n.7276T>C
ENST00000374647.9:c.2807T>C	ENSP00000363779.5:p.Ile936Thr
ENST00000537196.1:c.1760T>C	ENSP00000439367.1:p.Ile587Thr
NM_003640.3:c.2807T>C , LRG_251t1:c.2807T>C	NP_003631.2:p.Ile936Thr
XM_005252285.2:c.2465T>C	XP_005252342.1:p.Ile822Thr
XM_011519136.1:c.2807T>C	XP_011517438.1:p.Ile936Thr
XM_011519137.1:c.2465T>C	XP_011517439.1:p.Ile822Thr
XR_929859.1:n.3185T>C
NM_001318360.1:c.2465T>C	NP_001305289.1:p.Ile822Thr
NM_001330749.1:c.1760T>C	NP_001317678.1:p.Ile587Thr
NM_003640.4:c.2807T>C	NP_003631.2:p.Ile936Thr
XM_011519136.2:c.2807T>C	XP_011517438.1:p.Ile936Thr
XR_929859.3:n.3196T>C
NM_003640.5:c.2807T>C MANE Select	NP_003631.2:p.Ile936Thr
NM_001318360.2:c.2465T>C	NP_001305289.1:p.Ile822Thr
NM_001330749.2:c.1760T>C	NP_001317678.1:p.Ile587Thr