Canonical Allele Identifier: CA5174612

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108897011A>G , CM000671.2:g.108897011A>G	GRCh38
NC_000009.11:g.111659291A>G , CM000671.1:g.111659291A>G	GRCh37
NC_000009.10:g.110699112A>G	NCBI36
NG_008788.1:g.42318T>C , LRG_251:g.42318T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2529T>C MANE Select	ENSP00000363779.5:p.His843=
ENST00000495759.6:c.*1139T>C	ENSP00000433514.2:n.*1139T>C
ENST00000674535.1:c.2529T>C	ENSP00000502142.1:p.His843=
ENST00000674704.1:n.5552T>C
ENST00000674836.1:n.2834T>C
ENST00000674890.1:c.2529T>C	ENSP00000501870.1:p.His843=
ENST00000674938.1:c.2187T>C	ENSP00000502427.1:p.His729=
ENST00000674948.1:c.2187T>C	ENSP00000501602.1:p.His729=
ENST00000675052.1:c.2529T>C	ENSP00000502664.1:p.His843=
ENST00000675078.1:c.2529T>C	ENSP00000501549.1:p.His843=
ENST00000675215.1:c.*1753T>C	ENSP00000502558.1:n.*1753T>C
ENST00000675233.1:n.4356T>C
ENST00000675321.1:c.2529T>C	ENSP00000502751.1:p.His843=
ENST00000675325.1:n.4424T>C
ENST00000675335.1:c.2560T>C	ENSP00000502182.1:n.2560T>C
ENST00000675400.1:n.4202T>C
ENST00000675406.1:c.2529T>C	ENSP00000501893.1:p.His843=
ENST00000675458.1:c.2622T>C	ENSP00000501754.1:n.2622T>C
ENST00000675507.1:n.4325T>C
ENST00000675535.1:c.*94T>C	ENSP00000501667.1:n.*94T>C
ENST00000675566.1:n.4325T>C
ENST00000675602.1:n.5577T>C
ENST00000675647.1:n.2834T>C
ENST00000675711.1:c.2529T>C	ENSP00000502485.1:p.His843=
ENST00000675727.1:c.2529T>C	ENSP00000501722.1:p.His843=
ENST00000675748.1:n.4163T>C
ENST00000675765.1:c.2529T>C	ENSP00000502640.1:p.His843=
ENST00000675825.1:c.2529T>C	ENSP00000502632.1:p.His843=
ENST00000675877.1:n.2834T>C
ENST00000675893.1:c.*3598T>C	ENSP00000502001.1:n.*3598T>C
ENST00000675943.1:n.6144T>C
ENST00000675979.1:c.*1772T>C	ENSP00000502208.1:n.*1772T>C
ENST00000676044.1:c.*189T>C	ENSP00000502378.1:n.*189T>C
ENST00000676086.1:n.4314T>C
ENST00000676121.1:n.4357T>C
ENST00000676237.1:c.2430T>C	ENSP00000501828.1:p.His810=
ENST00000676416.1:c.2187T>C	ENSP00000501660.1:p.His729=
ENST00000676424.1:n.4325T>C
ENST00000676429.1:n.6998T>C
ENST00000374647.9:c.2529T>C	ENSP00000363779.5:p.His843=
ENST00000537196.1:c.1482T>C	ENSP00000439367.1:p.His494=
NM_003640.3:c.2529T>C , LRG_251t1:c.2529T>C	NP_003631.2:p.His843=
XM_005252285.2:c.2187T>C	XP_005252342.1:p.His729=
XM_011519136.1:c.2529T>C	XP_011517438.1:p.His843=
XM_011519137.1:c.2187T>C	XP_011517439.1:p.His729=
XR_929859.1:n.2845T>C
NM_001318360.1:c.2187T>C	NP_001305289.1:p.His729=
NM_001330749.1:c.1482T>C	NP_001317678.1:p.His494=
NM_003640.4:c.2529T>C	NP_003631.2:p.His843=
XM_011519136.2:c.2529T>C	XP_011517438.1:p.His843=
XR_929859.3:n.2856T>C
NM_003640.5:c.2529T>C MANE Select	NP_003631.2:p.His843=
NM_001318360.2:c.2187T>C	NP_001305289.1:p.His729=
NM_001330749.2:c.1482T>C	NP_001317678.1:p.His494=