Canonical Allele Identifier: CA374422960

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111662109A>C (hg19) ; chr9:g.108899829A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899829A>C , CM000671.2:g.108899829A>C	GRCh38
NC_000009.11:g.111662109A>C , CM000671.1:g.111662109A>C	GRCh37
NC_000009.10:g.110701930A>C	NCBI36
NG_008788.1:g.39500T>G , LRG_251:g.39500T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2197T>G MANE Select	ENSP00000363779.5:p.Leu733Val
ENST00000495759.6:c.*807T>G	ENSP00000433514.2:n.*807T>G
ENST00000674535.1:c.2197T>G	ENSP00000502142.1:p.Leu733Val
ENST00000674704.1:n.4004T>G
ENST00000674836.1:n.2502T>G
ENST00000674890.1:c.2197T>G	ENSP00000501870.1:p.Leu733Val
ENST00000674938.1:c.1855T>G	ENSP00000502427.1:p.Leu619Val
ENST00000674948.1:c.1855T>G	ENSP00000501602.1:p.Leu619Val
ENST00000675052.1:c.2197T>G	ENSP00000502664.1:p.Leu733Val
ENST00000675078.1:c.2197T>G	ENSP00000501549.1:p.Leu733Val
ENST00000675215.1:c.*1421T>G	ENSP00000502558.1:n.*1421T>G
ENST00000675233.1:n.4024T>G
ENST00000675321.1:c.2197T>G	ENSP00000502751.1:p.Leu733Val
ENST00000675325.1:n.3993T>G
ENST00000675335.1:c.2228T>G	ENSP00000502182.1:n.2228T>G
ENST00000675400.1:n.3870T>G
ENST00000675406.1:c.2197T>G	ENSP00000501893.1:p.Leu733Val
ENST00000675458.1:c.2290T>G	ENSP00000501754.1:n.2290T>G
ENST00000675507.1:n.3993T>G
ENST00000675535.1:c.2197T>G	ENSP00000501667.1:p.Leu733Val
ENST00000675566.1:n.3993T>G
ENST00000675602.1:n.5245T>G
ENST00000675647.1:n.2502T>G
ENST00000675711.1:c.2197T>G	ENSP00000502485.1:p.Leu733Val
ENST00000675727.1:c.2197T>G	ENSP00000501722.1:p.Leu733Val
ENST00000675748.1:n.3831T>G
ENST00000675765.1:c.2197T>G	ENSP00000502640.1:p.Leu733Val
ENST00000675825.1:c.2197T>G	ENSP00000502632.1:p.Leu733Val
ENST00000675877.1:n.2502T>G
ENST00000675893.1:c.*3266T>G	ENSP00000502001.1:n.*3266T>G
ENST00000675943.1:n.5812T>G
ENST00000675979.1:c.*1440T>G	ENSP00000502208.1:n.*1440T>G
ENST00000676044.1:c.2197T>G	ENSP00000502378.1:p.Leu733Val
ENST00000676086.1:n.3982T>G
ENST00000676121.1:n.4025T>G
ENST00000676237.1:c.2098T>G	ENSP00000501828.1:p.Leu700Val
ENST00000676416.1:c.1855T>G	ENSP00000501660.1:p.Leu619Val
ENST00000676424.1:n.3993T>G
ENST00000676429.1:n.6666T>G
ENST00000374647.9:c.2197T>G	ENSP00000363779.5:p.Leu733Val
ENST00000537196.1:c.1150T>G	ENSP00000439367.1:p.Leu384Val
NM_003640.3:c.2197T>G , LRG_251t1:c.2197T>G	NP_003631.2:p.Leu733Val
XM_005252285.2:c.1855T>G	XP_005252342.1:p.Leu619Val
XM_011519136.1:c.2197T>G	XP_011517438.1:p.Leu733Val
XM_011519137.1:c.1855T>G	XP_011517439.1:p.Leu619Val
XR_929859.1:n.2513T>G
NM_001318360.1:c.1855T>G	NP_001305289.1:p.Leu619Val
NM_001330749.1:c.1150T>G	NP_001317678.1:p.Leu384Val
NM_003640.4:c.2197T>G	NP_003631.2:p.Leu733Val
XM_011519136.2:c.2197T>G	XP_011517438.1:p.Leu733Val
XR_929859.3:n.2524T>G
NM_003640.5:c.2197T>G MANE Select	NP_003631.2:p.Leu733Val
NM_001318360.2:c.1855T>G	NP_001305289.1:p.Leu619Val
NM_001330749.2:c.1150T>G	NP_001317678.1:p.Leu384Val