Canonical Allele Identifier: CA374411885

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641801A>G (hg19) ; chr9:g.108879521A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879521A>G , CM000671.2:g.108879521A>G	GRCh38
NC_000009.11:g.111641801A>G , CM000671.1:g.111641801A>G	GRCh37
NC_000009.10:g.110681622A>G	NCBI36
NG_008788.1:g.59808T>C , LRG_251:g.59808T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3497T>C MANE Select	ENSP00000363779.5:p.Phe1166Ser
ENST00000495759.6:c.*2107T>C	ENSP00000433514.2:n.*2107T>C
ENST00000674535.1:c.3497T>C	ENSP00000502142.1:p.Phe1166Ser
ENST00000674704.1:n.6582T>C
ENST00000674740.1:n.380T>C
ENST00000674836.1:n.4110T>C
ENST00000674890.1:c.*732T>C	ENSP00000501870.1:n.*732T>C
ENST00000674938.1:c.3155T>C	ENSP00000502427.1:p.Phe1052Ser
ENST00000674948.1:c.3155T>C	ENSP00000501602.1:p.Phe1052Ser
ENST00000675052.1:c.3497T>C	ENSP00000502664.1:p.Phe1166Ser
ENST00000675062.1:n.543T>C
ENST00000675078.1:c.3497T>C	ENSP00000501549.1:p.Phe1166Ser
ENST00000675215.1:c.*2721T>C	ENSP00000502558.1:n.*2721T>C
ENST00000675233.1:n.5324T>C
ENST00000675321.1:c.3460+531T>C	ENSP00000502751.1:n.3460+531T>C
ENST00000675325.1:n.5454T>C
ENST00000675335.1:c.3528T>C	ENSP00000502182.1:n.3528T>C
ENST00000675400.1:n.5349T>C
ENST00000675406.1:c.3497T>C	ENSP00000501893.1:p.Phe1166Ser
ENST00000675458.1:c.3590T>C	ENSP00000501754.1:n.3590T>C
ENST00000675507.1:n.5293T>C
ENST00000675535.1:c.*1124T>C	ENSP00000501667.1:n.*1124T>C
ENST00000675566.1:n.5355T>C
ENST00000675580.1:n.650T>C
ENST00000675602.1:n.6545T>C
ENST00000675647.1:n.4661T>C
ENST00000675711.1:c.3614T>C	ENSP00000502485.1:n.3614T>C
ENST00000675727.1:c.3497T>C	ENSP00000501722.1:p.Phe1166Ser
ENST00000675748.1:n.5131T>C
ENST00000675765.1:c.*880T>C	ENSP00000502640.1:n.*880T>C
ENST00000675825.1:c.3539T>C	ENSP00000502632.1:p.Phe1180Ser
ENST00000675877.1:n.5341T>C
ENST00000675893.1:c.*4566T>C	ENSP00000502001.1:n.*4566T>C
ENST00000675943.1:n.7112T>C
ENST00000675979.1:c.*2740T>C	ENSP00000502208.1:n.*2740T>C
ENST00000676044.1:c.*1157T>C	ENSP00000502378.1:n.*1157T>C
ENST00000676086.1:n.5282T>C
ENST00000676121.1:n.5325T>C
ENST00000676162.1:n.226T>C
ENST00000676237.1:c.3440T>C	ENSP00000501828.1:p.Phe1147Ser
ENST00000676416.1:c.3197T>C	ENSP00000501660.1:p.Phe1066Ser
ENST00000676424.1:n.5335T>C
ENST00000676429.1:n.7966T>C
ENST00000374647.9:c.3497T>C	ENSP00000363779.5:p.Phe1166Ser
ENST00000467959.1:n.377T>C
ENST00000495759.5:c.637T>C
ENST00000537196.1:c.2450T>C	ENSP00000439367.1:p.Phe817Ser
NM_003640.3:c.3497T>C , LRG_251t1:c.3497T>C	NP_003631.2:p.Phe1166Ser
XM_005252285.2:c.3155T>C	XP_005252342.1:p.Phe1052Ser
XM_011519136.1:c.3539T>C	XP_011517438.1:p.Phe1180Ser
XM_011519137.1:c.3197T>C	XP_011517439.1:p.Phe1066Ser
NM_001318360.1:c.3155T>C	NP_001305289.1:p.Phe1052Ser
NM_001330749.1:c.2450T>C	NP_001317678.1:p.Phe817Ser
NM_003640.4:c.3497T>C	NP_003631.2:p.Phe1166Ser
XM_011519136.2:c.3539T>C	XP_011517438.1:p.Phe1180Ser
XR_929859.3:n.3886T>C
NM_003640.5:c.3497T>C MANE Select	NP_003631.2:p.Phe1166Ser
NM_001318360.2:c.3155T>C	NP_001305289.1:p.Phe1052Ser
NM_001330749.2:c.2450T>C	NP_001317678.1:p.Phe817Ser