Canonical Allele Identifier: CA374411700

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641760C>T (hg19) ; chr9:g.108879480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879480C>T , CM000671.2:g.108879480C>T	GRCh38
NC_000009.11:g.111641760C>T , CM000671.1:g.111641760C>T	GRCh37
NC_000009.10:g.110681581C>T	NCBI36
NG_008788.1:g.59849G>A , LRG_251:g.59849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3538G>A MANE Select	ENSP00000363779.5:p.Gly1180Ser
ENST00000495759.6:c.*2148G>A	ENSP00000433514.2:n.*2148G>A
ENST00000674535.1:c.3538G>A	ENSP00000502142.1:p.Gly1180Ser
ENST00000674704.1:n.6623G>A
ENST00000674740.1:n.421G>A
ENST00000674836.1:n.4151G>A
ENST00000674890.1:c.*773G>A	ENSP00000501870.1:n.*773G>A
ENST00000674938.1:c.3196G>A	ENSP00000502427.1:p.Gly1066Ser
ENST00000674948.1:c.3196G>A	ENSP00000501602.1:p.Gly1066Ser
ENST00000675052.1:c.3538G>A	ENSP00000502664.1:p.Gly1180Ser
ENST00000675062.1:n.584G>A
ENST00000675078.1:c.3538G>A	ENSP00000501549.1:p.Gly1180Ser
ENST00000675215.1:c.*2762G>A	ENSP00000502558.1:n.*2762G>A
ENST00000675233.1:n.5365G>A
ENST00000675321.1:c.3460+572G>A	ENSP00000502751.1:n.3460+572G>A
ENST00000675325.1:n.5495G>A
ENST00000675335.1:c.3569G>A	ENSP00000502182.1:n.3569G>A
ENST00000675400.1:n.5390G>A
ENST00000675406.1:c.3538G>A	ENSP00000501893.1:p.Gly1180Ser
ENST00000675458.1:c.3631G>A	ENSP00000501754.1:n.3631G>A
ENST00000675507.1:n.5334G>A
ENST00000675535.1:c.*1165G>A	ENSP00000501667.1:n.*1165G>A
ENST00000675566.1:n.5396G>A
ENST00000675580.1:n.691G>A
ENST00000675602.1:n.6586G>A
ENST00000675647.1:n.4702G>A
ENST00000675711.1:c.3655G>A	ENSP00000502485.1:n.3655G>A
ENST00000675727.1:c.3538G>A	ENSP00000501722.1:p.Gly1180Ser
ENST00000675748.1:n.5172G>A
ENST00000675765.1:c.*921G>A	ENSP00000502640.1:n.*921G>A
ENST00000675825.1:c.3580G>A	ENSP00000502632.1:p.Gly1194Ser
ENST00000675877.1:n.5382G>A
ENST00000675893.1:c.*4607G>A	ENSP00000502001.1:n.*4607G>A
ENST00000675943.1:n.7153G>A
ENST00000675979.1:c.*2781G>A	ENSP00000502208.1:n.*2781G>A
ENST00000676044.1:c.*1198G>A	ENSP00000502378.1:n.*1198G>A
ENST00000676086.1:n.5323G>A
ENST00000676121.1:n.5366G>A
ENST00000676162.1:n.267G>A
ENST00000676237.1:c.3481G>A	ENSP00000501828.1:p.Gly1161Ser
ENST00000676416.1:c.3238G>A	ENSP00000501660.1:p.Gly1080Ser
ENST00000676424.1:n.5376G>A
ENST00000676429.1:n.8007G>A
ENST00000374647.9:c.3538G>A	ENSP00000363779.5:p.Gly1180Ser
ENST00000467959.1:n.418G>A
ENST00000495759.5:c.678G>A
ENST00000537196.1:c.2491G>A	ENSP00000439367.1:p.Gly831Ser
NM_003640.3:c.3538G>A , LRG_251t1:c.3538G>A	NP_003631.2:p.Gly1180Ser
XM_005252285.2:c.3196G>A	XP_005252342.1:p.Gly1066Ser
XM_011519136.1:c.3580G>A	XP_011517438.1:p.Gly1194Ser
XM_011519137.1:c.3238G>A	XP_011517439.1:p.Gly1080Ser
NM_001318360.1:c.3196G>A	NP_001305289.1:p.Gly1066Ser
NM_001330749.1:c.2491G>A	NP_001317678.1:p.Gly831Ser
NM_003640.4:c.3538G>A	NP_003631.2:p.Gly1180Ser
XM_011519136.2:c.3580G>A	XP_011517438.1:p.Gly1194Ser
XR_929859.3:n.3927G>A
NM_003640.5:c.3538G>A MANE Select	NP_003631.2:p.Gly1180Ser
NM_001318360.2:c.3196G>A	NP_001305289.1:p.Gly1066Ser
NM_001330749.2:c.2491G>A	NP_001317678.1:p.Gly831Ser