Canonical Allele Identifier: CA374411599

Gene: ELP1

Linked Data

• dbSNP Id: rs1180833917
• gnomAD v2: 9-111641740-G-C
• gnomAD v4: 9-108879460-G-C
• MyVariant Identifiers: chr9:g.111641740G>C (hg19) ; chr9:g.108879460G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879460G>C , CM000671.2:g.108879460G>C	GRCh38
NC_000009.11:g.111641740G>C , CM000671.1:g.111641740G>C	GRCh37
NC_000009.10:g.110681561G>C	NCBI36
NG_008788.1:g.59869C>G , LRG_251:g.59869C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3558C>G MANE Select	ENSP00000363779.5:p.Asn1186Lys
ENST00000495759.6:c.*2168C>G	ENSP00000433514.2:n.*2168C>G
ENST00000674535.1:c.3558C>G	ENSP00000502142.1:p.Asn1186Lys
ENST00000674704.1:n.6643C>G
ENST00000674740.1:n.441C>G
ENST00000674836.1:n.4171C>G
ENST00000674890.1:c.*793C>G	ENSP00000501870.1:n.*793C>G
ENST00000674938.1:c.3216C>G	ENSP00000502427.1:p.Asn1072Lys
ENST00000674948.1:c.3216C>G	ENSP00000501602.1:p.Asn1072Lys
ENST00000675052.1:c.3558C>G	ENSP00000502664.1:p.Asn1186Lys
ENST00000675062.1:n.604C>G
ENST00000675078.1:c.3558C>G	ENSP00000501549.1:p.Asn1186Lys
ENST00000675215.1:c.*2782C>G	ENSP00000502558.1:n.*2782C>G
ENST00000675233.1:n.5385C>G
ENST00000675321.1:c.3460+592C>G	ENSP00000502751.1:n.3460+592C>G
ENST00000675325.1:n.5515C>G
ENST00000675335.1:c.3589C>G	ENSP00000502182.1:n.3589C>G
ENST00000675400.1:n.5410C>G
ENST00000675406.1:c.3558C>G	ENSP00000501893.1:p.Asn1186Lys
ENST00000675458.1:c.3651C>G	ENSP00000501754.1:n.3651C>G
ENST00000675507.1:n.5354C>G
ENST00000675535.1:c.*1185C>G	ENSP00000501667.1:n.*1185C>G
ENST00000675566.1:n.5416C>G
ENST00000675580.1:n.711C>G
ENST00000675602.1:n.6606C>G
ENST00000675647.1:n.4722C>G
ENST00000675711.1:c.3675C>G	ENSP00000502485.1:n.3675C>G
ENST00000675727.1:c.3558C>G	ENSP00000501722.1:p.Asn1186Lys
ENST00000675748.1:n.5192C>G
ENST00000675765.1:c.*941C>G	ENSP00000502640.1:n.*941C>G
ENST00000675825.1:c.3600C>G	ENSP00000502632.1:p.Asn1200Lys
ENST00000675877.1:n.5402C>G
ENST00000675893.1:c.*4627C>G	ENSP00000502001.1:n.*4627C>G
ENST00000675943.1:n.7173C>G
ENST00000675979.1:c.*2801C>G	ENSP00000502208.1:n.*2801C>G
ENST00000676044.1:c.*1218C>G	ENSP00000502378.1:n.*1218C>G
ENST00000676086.1:n.5343C>G
ENST00000676121.1:n.5386C>G
ENST00000676162.1:n.287C>G
ENST00000676237.1:c.3501C>G	ENSP00000501828.1:p.Asn1167Lys
ENST00000676416.1:c.3258C>G	ENSP00000501660.1:p.Asn1086Lys
ENST00000676424.1:n.5396C>G
ENST00000676429.1:n.8027C>G
ENST00000374647.9:c.3558C>G	ENSP00000363779.5:p.Asn1186Lys
ENST00000495759.5:c.698C>G
ENST00000537196.1:c.2511C>G	ENSP00000439367.1:p.Asn837Lys
NM_003640.3:c.3558C>G , LRG_251t1:c.3558C>G	NP_003631.2:p.Asn1186Lys
XM_005252285.2:c.3216C>G	XP_005252342.1:p.Asn1072Lys
XM_011519136.1:c.3600C>G	XP_011517438.1:p.Asn1200Lys
XM_011519137.1:c.3258C>G	XP_011517439.1:p.Asn1086Lys
NM_001318360.1:c.3216C>G	NP_001305289.1:p.Asn1072Lys
NM_001330749.1:c.2511C>G	NP_001317678.1:p.Asn837Lys
NM_003640.4:c.3558C>G	NP_003631.2:p.Asn1186Lys
XM_011519136.2:c.3600C>G	XP_011517438.1:p.Asn1200Lys
XR_929859.3:n.3947C>G
NM_003640.5:c.3558C>G MANE Select	NP_003631.2:p.Asn1186Lys
NM_001318360.2:c.3216C>G	NP_001305289.1:p.Asn1072Lys
NM_001330749.2:c.2511C>G	NP_001317678.1:p.Asn837Lys