Canonical Allele Identifier: CA374411623

Gene: ELP1

Linked Data

• gnomAD v4: 9-108879464-C-T
• MyVariant Identifiers: chr9:g.111641744C>T (hg19) ; chr9:g.108879464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879464C>T , CM000671.2:g.108879464C>T	GRCh38
NC_000009.11:g.111641744C>T , CM000671.1:g.111641744C>T	GRCh37
NC_000009.10:g.110681565C>T	NCBI36
NG_008788.1:g.59865G>A , LRG_251:g.59865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3554G>A MANE Select	ENSP00000363779.5:p.Ser1185Asn
ENST00000495759.6:c.*2164G>A	ENSP00000433514.2:n.*2164G>A
ENST00000674535.1:c.3554G>A	ENSP00000502142.1:p.Ser1185Asn
ENST00000674704.1:n.6639G>A
ENST00000674740.1:n.437G>A
ENST00000674836.1:n.4167G>A
ENST00000674890.1:c.*789G>A	ENSP00000501870.1:n.*789G>A
ENST00000674938.1:c.3212G>A	ENSP00000502427.1:p.Ser1071Asn
ENST00000674948.1:c.3212G>A	ENSP00000501602.1:p.Ser1071Asn
ENST00000675052.1:c.3554G>A	ENSP00000502664.1:p.Ser1185Asn
ENST00000675062.1:n.600G>A
ENST00000675078.1:c.3554G>A	ENSP00000501549.1:p.Ser1185Asn
ENST00000675215.1:c.*2778G>A	ENSP00000502558.1:n.*2778G>A
ENST00000675233.1:n.5381G>A
ENST00000675321.1:c.3460+588G>A	ENSP00000502751.1:n.3460+588G>A
ENST00000675325.1:n.5511G>A
ENST00000675335.1:c.3585G>A	ENSP00000502182.1:n.3585G>A
ENST00000675400.1:n.5406G>A
ENST00000675406.1:c.3554G>A	ENSP00000501893.1:p.Ser1185Asn
ENST00000675458.1:c.3647G>A	ENSP00000501754.1:n.3647G>A
ENST00000675507.1:n.5350G>A
ENST00000675535.1:c.*1181G>A	ENSP00000501667.1:n.*1181G>A
ENST00000675566.1:n.5412G>A
ENST00000675580.1:n.707G>A
ENST00000675602.1:n.6602G>A
ENST00000675647.1:n.4718G>A
ENST00000675711.1:c.3671G>A	ENSP00000502485.1:n.3671G>A
ENST00000675727.1:c.3554G>A	ENSP00000501722.1:p.Ser1185Asn
ENST00000675748.1:n.5188G>A
ENST00000675765.1:c.*937G>A	ENSP00000502640.1:n.*937G>A
ENST00000675825.1:c.3596G>A	ENSP00000502632.1:p.Ser1199Asn
ENST00000675877.1:n.5398G>A
ENST00000675893.1:c.*4623G>A	ENSP00000502001.1:n.*4623G>A
ENST00000675943.1:n.7169G>A
ENST00000675979.1:c.*2797G>A	ENSP00000502208.1:n.*2797G>A
ENST00000676044.1:c.*1214G>A	ENSP00000502378.1:n.*1214G>A
ENST00000676086.1:n.5339G>A
ENST00000676121.1:n.5382G>A
ENST00000676162.1:n.283G>A
ENST00000676237.1:c.3497G>A	ENSP00000501828.1:p.Ser1166Asn
ENST00000676416.1:c.3254G>A	ENSP00000501660.1:p.Ser1085Asn
ENST00000676424.1:n.5392G>A
ENST00000676429.1:n.8023G>A
ENST00000374647.9:c.3554G>A	ENSP00000363779.5:p.Ser1185Asn
ENST00000467959.1:n.434G>A
ENST00000495759.5:c.694G>A
ENST00000537196.1:c.2507G>A	ENSP00000439367.1:p.Ser836Asn
NM_003640.3:c.3554G>A , LRG_251t1:c.3554G>A	NP_003631.2:p.Ser1185Asn
XM_005252285.2:c.3212G>A	XP_005252342.1:p.Ser1071Asn
XM_011519136.1:c.3596G>A	XP_011517438.1:p.Ser1199Asn
XM_011519137.1:c.3254G>A	XP_011517439.1:p.Ser1085Asn
NM_001318360.1:c.3212G>A	NP_001305289.1:p.Ser1071Asn
NM_001330749.1:c.2507G>A	NP_001317678.1:p.Ser836Asn
NM_003640.4:c.3554G>A	NP_003631.2:p.Ser1185Asn
XM_011519136.2:c.3596G>A	XP_011517438.1:p.Ser1199Asn
XR_929859.3:n.3943G>A
NM_003640.5:c.3554G>A MANE Select	NP_003631.2:p.Ser1185Asn
NM_001318360.2:c.3212G>A	NP_001305289.1:p.Ser1071Asn
NM_001330749.2:c.2507G>A	NP_001317678.1:p.Ser836Asn