Canonical Allele Identifier: CA374411983

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641829C>A (hg19) ; chr9:g.108879549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879549C>A , CM000671.2:g.108879549C>A	GRCh38
NC_000009.11:g.111641829C>A , CM000671.1:g.111641829C>A	GRCh37
NC_000009.10:g.110681650C>A	NCBI36
NG_008788.1:g.59780G>T , LRG_251:g.59780G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3469G>T MANE Select	ENSP00000363779.5:p.Val1157Leu
ENST00000495759.6:c.*2079G>T	ENSP00000433514.2:n.*2079G>T
ENST00000674535.1:c.3469G>T	ENSP00000502142.1:p.Val1157Leu
ENST00000674704.1:n.6554G>T
ENST00000674740.1:n.352G>T
ENST00000674836.1:n.4082G>T
ENST00000674890.1:c.*704G>T	ENSP00000501870.1:n.*704G>T
ENST00000674938.1:c.3127G>T	ENSP00000502427.1:p.Val1043Leu
ENST00000674948.1:c.3127G>T	ENSP00000501602.1:p.Val1043Leu
ENST00000675052.1:c.3469G>T	ENSP00000502664.1:p.Val1157Leu
ENST00000675062.1:n.515G>T
ENST00000675078.1:c.3469G>T	ENSP00000501549.1:p.Val1157Leu
ENST00000675215.1:c.*2693G>T	ENSP00000502558.1:n.*2693G>T
ENST00000675233.1:n.5296G>T
ENST00000675321.1:c.3460+503G>T	ENSP00000502751.1:n.3460+503G>T
ENST00000675325.1:n.5426G>T
ENST00000675335.1:c.3500G>T	ENSP00000502182.1:n.3500G>T
ENST00000675400.1:n.5321G>T
ENST00000675406.1:c.3469G>T	ENSP00000501893.1:p.Val1157Leu
ENST00000675458.1:c.3562G>T	ENSP00000501754.1:n.3562G>T
ENST00000675507.1:n.5265G>T
ENST00000675535.1:c.*1096G>T	ENSP00000501667.1:n.*1096G>T
ENST00000675566.1:n.5327G>T
ENST00000675580.1:n.622G>T
ENST00000675602.1:n.6517G>T
ENST00000675647.1:n.4633G>T
ENST00000675711.1:c.3586G>T	ENSP00000502485.1:n.3586G>T
ENST00000675727.1:c.3469G>T	ENSP00000501722.1:p.Val1157Leu
ENST00000675748.1:n.5103G>T
ENST00000675765.1:c.*852G>T	ENSP00000502640.1:n.*852G>T
ENST00000675825.1:c.3511G>T	ENSP00000502632.1:p.Val1171Leu
ENST00000675877.1:n.5313G>T
ENST00000675893.1:c.*4538G>T	ENSP00000502001.1:n.*4538G>T
ENST00000675943.1:n.7084G>T
ENST00000675979.1:c.*2712G>T	ENSP00000502208.1:n.*2712G>T
ENST00000676044.1:c.*1129G>T	ENSP00000502378.1:n.*1129G>T
ENST00000676086.1:n.5254G>T
ENST00000676121.1:n.5297G>T
ENST00000676162.1:n.198G>T
ENST00000676237.1:c.3412G>T	ENSP00000501828.1:p.Val1138Leu
ENST00000676416.1:c.3169G>T	ENSP00000501660.1:p.Val1057Leu
ENST00000676424.1:n.5307G>T
ENST00000676429.1:n.7938G>T
ENST00000374647.9:c.3469G>T	ENSP00000363779.5:p.Val1157Leu
ENST00000467959.1:n.349G>T
ENST00000495759.5:c.609G>T
ENST00000537196.1:c.2422G>T	ENSP00000439367.1:p.Val808Leu
NM_003640.3:c.3469G>T , LRG_251t1:c.3469G>T	NP_003631.2:p.Val1157Leu
XM_005252285.2:c.3127G>T	XP_005252342.1:p.Val1043Leu
XM_011519136.1:c.3511G>T	XP_011517438.1:p.Val1171Leu
XM_011519137.1:c.3169G>T	XP_011517439.1:p.Val1057Leu
NM_001318360.1:c.3127G>T	NP_001305289.1:p.Val1043Leu
NM_001330749.1:c.2422G>T	NP_001317678.1:p.Val808Leu
NM_003640.4:c.3469G>T	NP_003631.2:p.Val1157Leu
XM_011519136.2:c.3511G>T	XP_011517438.1:p.Val1171Leu
XR_929859.3:n.3858G>T
NM_003640.5:c.3469G>T MANE Select	NP_003631.2:p.Val1157Leu
NM_001318360.2:c.3127G>T	NP_001305289.1:p.Val1043Leu
NM_001330749.2:c.2422G>T	NP_001317678.1:p.Val808Leu