Canonical Allele Identifier: CA374418854

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111656264A>C (hg19) ; chr9:g.108893984A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108893984A>C , CM000671.2:g.108893984A>C	GRCh38
NC_000009.11:g.111656264A>C , CM000671.1:g.111656264A>C	GRCh37
NC_000009.10:g.110696085A>C	NCBI36
NG_008788.1:g.45345T>G , LRG_251:g.45345T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2819T>G MANE Select	ENSP00000363779.5:p.Leu940Trp
ENST00000495759.6:c.*1429T>G	ENSP00000433514.2:n.*1429T>G
ENST00000674535.1:c.2819T>G	ENSP00000502142.1:p.Leu940Trp
ENST00000674704.1:n.5904T>G
ENST00000674836.1:n.3432T>G
ENST00000674890.1:c.*54T>G	ENSP00000501870.1:n.*54T>G
ENST00000674938.1:c.2477T>G	ENSP00000502427.1:p.Leu826Trp
ENST00000674948.1:c.2477T>G	ENSP00000501602.1:p.Leu826Trp
ENST00000675052.1:c.2819T>G	ENSP00000502664.1:p.Leu940Trp
ENST00000675078.1:c.2819T>G	ENSP00000501549.1:p.Leu940Trp
ENST00000675215.1:c.*2043T>G	ENSP00000502558.1:n.*2043T>G
ENST00000675233.1:n.4646T>G
ENST00000675321.1:c.2819T>G	ENSP00000502751.1:p.Leu940Trp
ENST00000675325.1:n.4776T>G
ENST00000675335.1:c.2850T>G	ENSP00000502182.1:n.2850T>G
ENST00000675400.1:n.4554T>G
ENST00000675406.1:c.2819T>G	ENSP00000501893.1:p.Leu940Trp
ENST00000675458.1:c.2912T>G	ENSP00000501754.1:n.2912T>G
ENST00000675507.1:n.4615T>G
ENST00000675535.1:c.*446T>G	ENSP00000501667.1:n.*446T>G
ENST00000675566.1:n.4677T>G
ENST00000675602.1:n.5867T>G
ENST00000675647.1:n.3124T>G
ENST00000675711.1:c.2819T>G	ENSP00000502485.1:p.Leu940Trp
ENST00000675727.1:c.2819T>G	ENSP00000501722.1:p.Leu940Trp
ENST00000675748.1:n.4453T>G
ENST00000675765.1:c.*202T>G	ENSP00000502640.1:n.*202T>G
ENST00000675825.1:c.2819T>G	ENSP00000502632.1:p.Leu940Trp
ENST00000675877.1:n.3124T>G
ENST00000675893.1:c.*3888T>G	ENSP00000502001.1:n.*3888T>G
ENST00000675943.1:n.6434T>G
ENST00000675979.1:c.*2062T>G	ENSP00000502208.1:n.*2062T>G
ENST00000676044.1:c.*479T>G	ENSP00000502378.1:n.*479T>G
ENST00000676086.1:n.4604T>G
ENST00000676121.1:n.4647T>G
ENST00000676237.1:c.2720T>G	ENSP00000501828.1:p.Leu907Trp
ENST00000676416.1:c.2477T>G	ENSP00000501660.1:p.Leu826Trp
ENST00000676424.1:n.4615T>G
ENST00000676429.1:n.7288T>G
ENST00000374647.9:c.2819T>G	ENSP00000363779.5:p.Leu940Trp
ENST00000537196.1:c.1772T>G	ENSP00000439367.1:p.Leu591Trp
NM_003640.3:c.2819T>G , LRG_251t1:c.2819T>G	NP_003631.2:p.Leu940Trp
XM_005252285.2:c.2477T>G	XP_005252342.1:p.Leu826Trp
XM_011519136.1:c.2819T>G	XP_011517438.1:p.Leu940Trp
XM_011519137.1:c.2477T>G	XP_011517439.1:p.Leu826Trp
XR_929859.1:n.3197T>G
NM_001318360.1:c.2477T>G	NP_001305289.1:p.Leu826Trp
NM_001330749.1:c.1772T>G	NP_001317678.1:p.Leu591Trp
NM_003640.4:c.2819T>G	NP_003631.2:p.Leu940Trp
XM_011519136.2:c.2819T>G	XP_011517438.1:p.Leu940Trp
XR_929859.3:n.3208T>G
NM_003640.5:c.2819T>G MANE Select	NP_003631.2:p.Leu940Trp
NM_001318360.2:c.2477T>G	NP_001305289.1:p.Leu826Trp
NM_001330749.2:c.1772T>G	NP_001317678.1:p.Leu591Trp