Canonical Allele Identifier: CA374411592

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641739A>C (hg19) ; chr9:g.108879459A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879459A>C , CM000671.2:g.108879459A>C	GRCh38
NC_000009.11:g.111641739A>C , CM000671.1:g.111641739A>C	GRCh37
NC_000009.10:g.110681560A>C	NCBI36
NG_008788.1:g.59870T>G , LRG_251:g.59870T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3559T>G MANE Select	ENSP00000363779.5:p.Ser1187Ala
ENST00000495759.6:c.*2169T>G	ENSP00000433514.2:n.*2169T>G
ENST00000674535.1:c.3559T>G	ENSP00000502142.1:p.Ser1187Ala
ENST00000674704.1:n.6644T>G
ENST00000674740.1:n.442T>G
ENST00000674836.1:n.4172T>G
ENST00000674890.1:c.*794T>G	ENSP00000501870.1:n.*794T>G
ENST00000674938.1:c.3217T>G	ENSP00000502427.1:p.Ser1073Ala
ENST00000674948.1:c.3217T>G	ENSP00000501602.1:p.Ser1073Ala
ENST00000675052.1:c.3559T>G	ENSP00000502664.1:p.Ser1187Ala
ENST00000675062.1:n.605T>G
ENST00000675078.1:c.3559T>G	ENSP00000501549.1:p.Ser1187Ala
ENST00000675215.1:c.*2783T>G	ENSP00000502558.1:n.*2783T>G
ENST00000675233.1:n.5386T>G
ENST00000675321.1:c.3460+593T>G	ENSP00000502751.1:n.3460+593T>G
ENST00000675325.1:n.5516T>G
ENST00000675335.1:c.3590T>G	ENSP00000502182.1:n.3590T>G
ENST00000675400.1:n.5411T>G
ENST00000675406.1:c.3559T>G	ENSP00000501893.1:p.Ser1187Ala
ENST00000675458.1:c.3652T>G	ENSP00000501754.1:n.3652T>G
ENST00000675507.1:n.5355T>G
ENST00000675535.1:c.*1186T>G	ENSP00000501667.1:n.*1186T>G
ENST00000675566.1:n.5417T>G
ENST00000675580.1:n.712T>G
ENST00000675602.1:n.6607T>G
ENST00000675647.1:n.4723T>G
ENST00000675711.1:c.3676T>G	ENSP00000502485.1:n.3676T>G
ENST00000675727.1:c.3559T>G	ENSP00000501722.1:p.Ser1187Ala
ENST00000675748.1:n.5193T>G
ENST00000675765.1:c.*942T>G	ENSP00000502640.1:n.*942T>G
ENST00000675825.1:c.3601T>G	ENSP00000502632.1:p.Ser1201Ala
ENST00000675877.1:n.5403T>G
ENST00000675893.1:c.*4628T>G	ENSP00000502001.1:n.*4628T>G
ENST00000675943.1:n.7174T>G
ENST00000675979.1:c.*2802T>G	ENSP00000502208.1:n.*2802T>G
ENST00000676044.1:c.*1219T>G	ENSP00000502378.1:n.*1219T>G
ENST00000676086.1:n.5344T>G
ENST00000676121.1:n.5387T>G
ENST00000676162.1:n.288T>G
ENST00000676237.1:c.3502T>G	ENSP00000501828.1:p.Ser1168Ala
ENST00000676416.1:c.3259T>G	ENSP00000501660.1:p.Ser1087Ala
ENST00000676424.1:n.5397T>G
ENST00000676429.1:n.8028T>G
ENST00000374647.9:c.3559T>G	ENSP00000363779.5:p.Ser1187Ala
ENST00000495759.5:c.699T>G
ENST00000537196.1:c.2512T>G	ENSP00000439367.1:p.Ser838Ala
NM_003640.3:c.3559T>G , LRG_251t1:c.3559T>G	NP_003631.2:p.Ser1187Ala
XM_005252285.2:c.3217T>G	XP_005252342.1:p.Ser1073Ala
XM_011519136.1:c.3601T>G	XP_011517438.1:p.Ser1201Ala
XM_011519137.1:c.3259T>G	XP_011517439.1:p.Ser1087Ala
NM_001318360.1:c.3217T>G	NP_001305289.1:p.Ser1073Ala
NM_001330749.1:c.2512T>G	NP_001317678.1:p.Ser838Ala
NM_003640.4:c.3559T>G	NP_003631.2:p.Ser1187Ala
XM_011519136.2:c.3601T>G	XP_011517438.1:p.Ser1201Ala
XR_929859.3:n.3948T>G
NM_003640.5:c.3559T>G MANE Select	NP_003631.2:p.Ser1187Ala
NM_001318360.2:c.3217T>G	NP_001305289.1:p.Ser1073Ala
NM_001330749.2:c.2512T>G	NP_001317678.1:p.Ser838Ala