Canonical Allele Identifier: CA374418909

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111656279G>T (hg19) ; chr9:g.108893999G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893999G>T , CM000671.2:g.108893999G>T	GRCh38
NC_000009.11:g.111656279G>T , CM000671.1:g.111656279G>T	GRCh37
NC_000009.10:g.110696100G>T	NCBI36
NG_008788.1:g.45330C>A , LRG_251:g.45330C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2804C>A MANE Select	ENSP00000363779.5:p.Thr935Asn
ENST00000495759.6:c.*1414C>A	ENSP00000433514.2:n.*1414C>A
ENST00000674535.1:c.2804C>A	ENSP00000502142.1:p.Thr935Asn
ENST00000674704.1:n.5889C>A
ENST00000674836.1:n.3417C>A
ENST00000674890.1:c.*39C>A	ENSP00000501870.1:n.*39C>A
ENST00000674938.1:c.2462C>A	ENSP00000502427.1:p.Thr821Asn
ENST00000674948.1:c.2462C>A	ENSP00000501602.1:p.Thr821Asn
ENST00000675052.1:c.2804C>A	ENSP00000502664.1:p.Thr935Asn
ENST00000675078.1:c.2804C>A	ENSP00000501549.1:p.Thr935Asn
ENST00000675215.1:c.*2028C>A	ENSP00000502558.1:n.*2028C>A
ENST00000675233.1:n.4631C>A
ENST00000675321.1:c.2804C>A	ENSP00000502751.1:p.Thr935Asn
ENST00000675325.1:n.4761C>A
ENST00000675335.1:c.2835C>A	ENSP00000502182.1:n.2835C>A
ENST00000675400.1:n.4539C>A
ENST00000675406.1:c.2804C>A	ENSP00000501893.1:p.Thr935Asn
ENST00000675458.1:c.2897C>A	ENSP00000501754.1:n.2897C>A
ENST00000675507.1:n.4600C>A
ENST00000675535.1:c.*431C>A	ENSP00000501667.1:n.*431C>A
ENST00000675566.1:n.4662C>A
ENST00000675602.1:n.5852C>A
ENST00000675647.1:n.3109C>A
ENST00000675711.1:c.2804C>A	ENSP00000502485.1:p.Thr935Asn
ENST00000675727.1:c.2804C>A	ENSP00000501722.1:p.Thr935Asn
ENST00000675748.1:n.4438C>A
ENST00000675765.1:c.*187C>A	ENSP00000502640.1:n.*187C>A
ENST00000675825.1:c.2804C>A	ENSP00000502632.1:p.Thr935Asn
ENST00000675877.1:n.3109C>A
ENST00000675893.1:c.*3873C>A	ENSP00000502001.1:n.*3873C>A
ENST00000675943.1:n.6419C>A
ENST00000675979.1:c.*2047C>A	ENSP00000502208.1:n.*2047C>A
ENST00000676044.1:c.*464C>A	ENSP00000502378.1:n.*464C>A
ENST00000676086.1:n.4589C>A
ENST00000676121.1:n.4632C>A
ENST00000676237.1:c.2705C>A	ENSP00000501828.1:p.Thr902Asn
ENST00000676416.1:c.2462C>A	ENSP00000501660.1:p.Thr821Asn
ENST00000676424.1:n.4600C>A
ENST00000676429.1:n.7273C>A
ENST00000374647.9:c.2804C>A	ENSP00000363779.5:p.Thr935Asn
ENST00000537196.1:c.1757C>A	ENSP00000439367.1:p.Thr586Asn
NM_003640.3:c.2804C>A , LRG_251t1:c.2804C>A	NP_003631.2:p.Thr935Asn
XM_005252285.2:c.2462C>A	XP_005252342.1:p.Thr821Asn
XM_011519136.1:c.2804C>A	XP_011517438.1:p.Thr935Asn
XM_011519137.1:c.2462C>A	XP_011517439.1:p.Thr821Asn
XR_929859.1:n.3182C>A
NM_001318360.1:c.2462C>A	NP_001305289.1:p.Thr821Asn
NM_001330749.1:c.1757C>A	NP_001317678.1:p.Thr586Asn
NM_003640.4:c.2804C>A	NP_003631.2:p.Thr935Asn
XM_011519136.2:c.2804C>A	XP_011517438.1:p.Thr935Asn
XR_929859.3:n.3193C>A
NM_003640.5:c.2804C>A MANE Select	NP_003631.2:p.Thr935Asn
NM_001318360.2:c.2462C>A	NP_001305289.1:p.Thr821Asn
NM_001330749.2:c.1757C>A	NP_001317678.1:p.Thr586Asn