Canonical Allele Identifier: CA374423036

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111662123T>A (hg19) ; chr9:g.108899843T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899843T>A , CM000671.2:g.108899843T>A	GRCh38
NC_000009.11:g.111662123T>A , CM000671.1:g.111662123T>A	GRCh37
NC_000009.10:g.110701944T>A	NCBI36
NG_008788.1:g.39486A>T , LRG_251:g.39486A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2183A>T MANE Select	ENSP00000363779.5:p.Gln728Leu
ENST00000495759.6:c.*793A>T	ENSP00000433514.2:n.*793A>T
ENST00000674535.1:c.2183A>T	ENSP00000502142.1:p.Gln728Leu
ENST00000674704.1:n.3990A>T
ENST00000674836.1:n.2488A>T
ENST00000674890.1:c.2183A>T	ENSP00000501870.1:p.Gln728Leu
ENST00000674938.1:c.1841A>T	ENSP00000502427.1:p.Gln614Leu
ENST00000674948.1:c.1841A>T	ENSP00000501602.1:p.Gln614Leu
ENST00000675052.1:c.2183A>T	ENSP00000502664.1:p.Gln728Leu
ENST00000675078.1:c.2183A>T	ENSP00000501549.1:p.Gln728Leu
ENST00000675215.1:c.*1407A>T	ENSP00000502558.1:n.*1407A>T
ENST00000675233.1:n.4010A>T
ENST00000675321.1:c.2183A>T	ENSP00000502751.1:p.Gln728Leu
ENST00000675325.1:n.3979A>T
ENST00000675335.1:c.2214A>T	ENSP00000502182.1:n.2214A>T
ENST00000675400.1:n.3856A>T
ENST00000675406.1:c.2183A>T	ENSP00000501893.1:p.Gln728Leu
ENST00000675458.1:c.2276A>T	ENSP00000501754.1:n.2276A>T
ENST00000675507.1:n.3979A>T
ENST00000675535.1:c.2183A>T	ENSP00000501667.1:p.Gln728Leu
ENST00000675566.1:n.3979A>T
ENST00000675602.1:n.5231A>T
ENST00000675647.1:n.2488A>T
ENST00000675711.1:c.2183A>T	ENSP00000502485.1:p.Gln728Leu
ENST00000675727.1:c.2183A>T	ENSP00000501722.1:p.Gln728Leu
ENST00000675748.1:n.3817A>T
ENST00000675765.1:c.2183A>T	ENSP00000502640.1:p.Gln728Leu
ENST00000675825.1:c.2183A>T	ENSP00000502632.1:p.Gln728Leu
ENST00000675877.1:n.2488A>T
ENST00000675893.1:c.*3252A>T	ENSP00000502001.1:n.*3252A>T
ENST00000675943.1:n.5798A>T
ENST00000675979.1:c.*1426A>T	ENSP00000502208.1:n.*1426A>T
ENST00000676044.1:c.2183A>T	ENSP00000502378.1:p.Gln728Leu
ENST00000676086.1:n.3968A>T
ENST00000676121.1:n.4011A>T
ENST00000676237.1:c.2084A>T	ENSP00000501828.1:p.Gln695Leu
ENST00000676416.1:c.1841A>T	ENSP00000501660.1:p.Gln614Leu
ENST00000676424.1:n.3979A>T
ENST00000676429.1:n.6652A>T
ENST00000374647.9:c.2183A>T	ENSP00000363779.5:p.Gln728Leu
ENST00000537196.1:c.1136A>T	ENSP00000439367.1:p.Gln379Leu
NM_003640.3:c.2183A>T , LRG_251t1:c.2183A>T	NP_003631.2:p.Gln728Leu
XM_005252285.2:c.1841A>T	XP_005252342.1:p.Gln614Leu
XM_011519136.1:c.2183A>T	XP_011517438.1:p.Gln728Leu
XM_011519137.1:c.1841A>T	XP_011517439.1:p.Gln614Leu
XR_929859.1:n.2499A>T
NM_001318360.1:c.1841A>T	NP_001305289.1:p.Gln614Leu
NM_001330749.1:c.1136A>T	NP_001317678.1:p.Gln379Leu
NM_003640.4:c.2183A>T	NP_003631.2:p.Gln728Leu
XM_011519136.2:c.2183A>T	XP_011517438.1:p.Gln728Leu
XR_929859.3:n.2510A>T
NM_003640.5:c.2183A>T MANE Select	NP_003631.2:p.Gln728Leu
NM_001318360.2:c.1841A>T	NP_001305289.1:p.Gln614Leu
NM_001330749.2:c.1136A>T	NP_001317678.1:p.Gln379Leu