Canonical Allele Identifier: CA374412001

Gene: ELP1

Linked Data

• dbSNP Id: rs1331526630
• gnomAD v2: 9-111641834-T-C
• gnomAD v4: 9-108879554-T-C
• MyVariant Identifiers: chr9:g.111641834T>C (hg19) ; chr9:g.108879554T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879554T>C , CM000671.2:g.108879554T>C	GRCh38
NC_000009.11:g.111641834T>C , CM000671.1:g.111641834T>C	GRCh37
NC_000009.10:g.110681655T>C	NCBI36
NG_008788.1:g.59775A>G , LRG_251:g.59775A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3464A>G MANE Select	ENSP00000363779.5:p.Asp1155Gly
ENST00000495759.6:c.*2074A>G	ENSP00000433514.2:n.*2074A>G
ENST00000674535.1:c.3464A>G	ENSP00000502142.1:p.Asp1155Gly
ENST00000674704.1:n.6549A>G
ENST00000674740.1:n.347A>G
ENST00000674836.1:n.4077A>G
ENST00000674890.1:c.*699A>G	ENSP00000501870.1:n.*699A>G
ENST00000674938.1:c.3122A>G	ENSP00000502427.1:p.Asp1041Gly
ENST00000674948.1:c.3122A>G	ENSP00000501602.1:p.Asp1041Gly
ENST00000675052.1:c.3464A>G	ENSP00000502664.1:p.Asp1155Gly
ENST00000675062.1:n.510A>G
ENST00000675078.1:c.3464A>G	ENSP00000501549.1:p.Asp1155Gly
ENST00000675215.1:c.*2688A>G	ENSP00000502558.1:n.*2688A>G
ENST00000675233.1:n.5291A>G
ENST00000675321.1:c.3460+498A>G	ENSP00000502751.1:n.3460+498A>G
ENST00000675325.1:n.5421A>G
ENST00000675335.1:c.3495A>G	ENSP00000502182.1:n.3495A>G
ENST00000675400.1:n.5316A>G
ENST00000675406.1:c.3464A>G	ENSP00000501893.1:p.Asp1155Gly
ENST00000675458.1:c.3557A>G	ENSP00000501754.1:n.3557A>G
ENST00000675507.1:n.5260A>G
ENST00000675535.1:c.*1091A>G	ENSP00000501667.1:n.*1091A>G
ENST00000675566.1:n.5322A>G
ENST00000675580.1:n.617A>G
ENST00000675602.1:n.6512A>G
ENST00000675647.1:n.4628A>G
ENST00000675711.1:c.3581A>G	ENSP00000502485.1:n.3581A>G
ENST00000675727.1:c.3464A>G	ENSP00000501722.1:p.Asp1155Gly
ENST00000675748.1:n.5098A>G
ENST00000675765.1:c.*847A>G	ENSP00000502640.1:n.*847A>G
ENST00000675825.1:c.3506A>G	ENSP00000502632.1:p.Asp1169Gly
ENST00000675877.1:n.5308A>G
ENST00000675893.1:c.*4533A>G	ENSP00000502001.1:n.*4533A>G
ENST00000675943.1:n.7079A>G
ENST00000675979.1:c.*2707A>G	ENSP00000502208.1:n.*2707A>G
ENST00000676044.1:c.*1124A>G	ENSP00000502378.1:n.*1124A>G
ENST00000676086.1:n.5249A>G
ENST00000676121.1:n.5292A>G
ENST00000676162.1:n.193A>G
ENST00000676237.1:c.3407A>G	ENSP00000501828.1:p.Asp1136Gly
ENST00000676416.1:c.3164A>G	ENSP00000501660.1:p.Asp1055Gly
ENST00000676424.1:n.5302A>G
ENST00000676429.1:n.7933A>G
ENST00000374647.9:c.3464A>G	ENSP00000363779.5:p.Asp1155Gly
ENST00000467959.1:n.344A>G
ENST00000495759.5:c.604A>G
ENST00000537196.1:c.2417A>G	ENSP00000439367.1:p.Asp806Gly
NM_003640.3:c.3464A>G , LRG_251t1:c.3464A>G	NP_003631.2:p.Asp1155Gly
XM_005252285.2:c.3122A>G	XP_005252342.1:p.Asp1041Gly
XM_011519136.1:c.3506A>G	XP_011517438.1:p.Asp1169Gly
XM_011519137.1:c.3164A>G	XP_011517439.1:p.Asp1055Gly
NM_001318360.1:c.3122A>G	NP_001305289.1:p.Asp1041Gly
NM_001330749.1:c.2417A>G	NP_001317678.1:p.Asp806Gly
NM_003640.4:c.3464A>G	NP_003631.2:p.Asp1155Gly
XM_011519136.2:c.3506A>G	XP_011517438.1:p.Asp1169Gly
XR_929859.3:n.3853A>G
NM_003640.5:c.3464A>G MANE Select	NP_003631.2:p.Asp1155Gly
NM_001318360.2:c.3122A>G	NP_001305289.1:p.Asp1041Gly
NM_001330749.2:c.2417A>G	NP_001317678.1:p.Asp806Gly