Canonical Allele Identifier: CA5174268

Gene: ELP1

Linked Data

• dbSNP Id: rs748630171
• ExAC: 9:111641745 T / C
• gnomAD v2: 9-111641745-T-C
• gnomAD v3: 9-108879465-T-C
• gnomAD v4: 9-108879465-T-C
• MyVariant Identifiers: chr9:g.111641745T>C (hg19) ; chr9:g.108879465T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879465T>C , CM000671.2:g.108879465T>C	GRCh38
NC_000009.11:g.111641745T>C , CM000671.1:g.111641745T>C	GRCh37
NC_000009.10:g.110681566T>C	NCBI36
NG_008788.1:g.59864A>G , LRG_251:g.59864A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3553A>G MANE Select	ENSP00000363779.5:p.Ser1185Gly
ENST00000495759.6:c.*2163A>G	ENSP00000433514.2:n.*2163A>G
ENST00000674535.1:c.3553A>G	ENSP00000502142.1:p.Ser1185Gly
ENST00000674704.1:n.6638A>G
ENST00000674740.1:n.436A>G
ENST00000674836.1:n.4166A>G
ENST00000674890.1:c.*788A>G	ENSP00000501870.1:n.*788A>G
ENST00000674938.1:c.3211A>G	ENSP00000502427.1:p.Ser1071Gly
ENST00000674948.1:c.3211A>G	ENSP00000501602.1:p.Ser1071Gly
ENST00000675052.1:c.3553A>G	ENSP00000502664.1:p.Ser1185Gly
ENST00000675062.1:n.599A>G
ENST00000675078.1:c.3553A>G	ENSP00000501549.1:p.Ser1185Gly
ENST00000675215.1:c.*2777A>G	ENSP00000502558.1:n.*2777A>G
ENST00000675233.1:n.5380A>G
ENST00000675321.1:c.3460+587A>G	ENSP00000502751.1:n.3460+587A>G
ENST00000675325.1:n.5510A>G
ENST00000675335.1:c.3584A>G	ENSP00000502182.1:n.3584A>G
ENST00000675400.1:n.5405A>G
ENST00000675406.1:c.3553A>G	ENSP00000501893.1:p.Ser1185Gly
ENST00000675458.1:c.3646A>G	ENSP00000501754.1:n.3646A>G
ENST00000675507.1:n.5349A>G
ENST00000675535.1:c.*1180A>G	ENSP00000501667.1:n.*1180A>G
ENST00000675566.1:n.5411A>G
ENST00000675580.1:n.706A>G
ENST00000675602.1:n.6601A>G
ENST00000675647.1:n.4717A>G
ENST00000675711.1:c.3670A>G	ENSP00000502485.1:n.3670A>G
ENST00000675727.1:c.3553A>G	ENSP00000501722.1:p.Ser1185Gly
ENST00000675748.1:n.5187A>G
ENST00000675765.1:c.*936A>G	ENSP00000502640.1:n.*936A>G
ENST00000675825.1:c.3595A>G	ENSP00000502632.1:p.Ser1199Gly
ENST00000675877.1:n.5397A>G
ENST00000675893.1:c.*4622A>G	ENSP00000502001.1:n.*4622A>G
ENST00000675943.1:n.7168A>G
ENST00000675979.1:c.*2796A>G	ENSP00000502208.1:n.*2796A>G
ENST00000676044.1:c.*1213A>G	ENSP00000502378.1:n.*1213A>G
ENST00000676086.1:n.5338A>G
ENST00000676121.1:n.5381A>G
ENST00000676162.1:n.282A>G
ENST00000676237.1:c.3496A>G	ENSP00000501828.1:p.Ser1166Gly
ENST00000676416.1:c.3253A>G	ENSP00000501660.1:p.Ser1085Gly
ENST00000676424.1:n.5391A>G
ENST00000676429.1:n.8022A>G
ENST00000374647.9:c.3553A>G	ENSP00000363779.5:p.Ser1185Gly
ENST00000467959.1:n.433A>G
ENST00000495759.5:c.693A>G
ENST00000537196.1:c.2506A>G	ENSP00000439367.1:p.Ser836Gly
NM_003640.3:c.3553A>G , LRG_251t1:c.3553A>G	NP_003631.2:p.Ser1185Gly
XM_005252285.2:c.3211A>G	XP_005252342.1:p.Ser1071Gly
XM_011519136.1:c.3595A>G	XP_011517438.1:p.Ser1199Gly
XM_011519137.1:c.3253A>G	XP_011517439.1:p.Ser1085Gly
NM_001318360.1:c.3211A>G	NP_001305289.1:p.Ser1071Gly
NM_001330749.1:c.2506A>G	NP_001317678.1:p.Ser836Gly
NM_003640.4:c.3553A>G	NP_003631.2:p.Ser1185Gly
XM_011519136.2:c.3595A>G	XP_011517438.1:p.Ser1199Gly
XR_929859.3:n.3942A>G
NM_003640.5:c.3553A>G MANE Select	NP_003631.2:p.Ser1185Gly
NM_001318360.2:c.3211A>G	NP_001305289.1:p.Ser1071Gly
NM_001330749.2:c.2506A>G	NP_001317678.1:p.Ser836Gly