Canonical Allele Identifier: CA374419202

Gene: ELP1

Linked Data

• dbSNP Id: rs1358495520
• gnomAD v3: 9-108894065-T-A
• gnomAD v4: 9-108894065-T-A
• MyVariant Identifiers: chr9:g.111656345T>A (hg19) ; chr9:g.108894065T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108894065T>A , CM000671.2:g.108894065T>A	GRCh38
NC_000009.11:g.111656345T>A , CM000671.1:g.111656345T>A	GRCh37
NC_000009.10:g.110696166T>A	NCBI36
NG_008788.1:g.45264A>T , LRG_251:g.45264A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2738A>T MANE Select	ENSP00000363779.5:p.Asp913Val
ENST00000495759.6:c.*1348A>T	ENSP00000433514.2:n.*1348A>T
ENST00000674535.1:c.2738A>T	ENSP00000502142.1:p.Asp913Val
ENST00000674704.1:n.5823A>T
ENST00000674836.1:n.3351A>T
ENST00000674890.1:c.2760A>T	ENSP00000501870.1:p.Gly920=
ENST00000674938.1:c.2396A>T	ENSP00000502427.1:p.Asp799Val
ENST00000674948.1:c.2396A>T	ENSP00000501602.1:p.Asp799Val
ENST00000675052.1:c.2738A>T	ENSP00000502664.1:p.Asp913Val
ENST00000675078.1:c.2738A>T	ENSP00000501549.1:p.Asp913Val
ENST00000675215.1:c.*1962A>T	ENSP00000502558.1:n.*1962A>T
ENST00000675233.1:n.4565A>T
ENST00000675321.1:c.2738A>T	ENSP00000502751.1:p.Asp913Val
ENST00000675325.1:n.4695A>T
ENST00000675335.1:c.2769A>T	ENSP00000502182.1:n.2769A>T
ENST00000675400.1:n.4473A>T
ENST00000675406.1:c.2738A>T	ENSP00000501893.1:p.Asp913Val
ENST00000675458.1:c.2831A>T	ENSP00000501754.1:n.2831A>T
ENST00000675507.1:n.4534A>T
ENST00000675535.1:c.*365A>T	ENSP00000501667.1:n.*365A>T
ENST00000675566.1:n.4596A>T
ENST00000675602.1:n.5786A>T
ENST00000675647.1:n.3043A>T
ENST00000675711.1:c.2738A>T	ENSP00000502485.1:p.Asp913Val
ENST00000675727.1:c.2738A>T	ENSP00000501722.1:p.Asp913Val
ENST00000675748.1:n.4372A>T
ENST00000675765.1:c.*121A>T	ENSP00000502640.1:n.*121A>T
ENST00000675825.1:c.2738A>T	ENSP00000502632.1:p.Asp913Val
ENST00000675877.1:n.3043A>T
ENST00000675893.1:c.*3807A>T	ENSP00000502001.1:n.*3807A>T
ENST00000675943.1:n.6353A>T
ENST00000675979.1:c.*1981A>T	ENSP00000502208.1:n.*1981A>T
ENST00000676044.1:c.*398A>T	ENSP00000502378.1:n.*398A>T
ENST00000676086.1:n.4523A>T
ENST00000676121.1:n.4566A>T
ENST00000676237.1:c.2639A>T	ENSP00000501828.1:p.Asp880Val
ENST00000676416.1:c.2396A>T	ENSP00000501660.1:p.Asp799Val
ENST00000676424.1:n.4534A>T
ENST00000676429.1:n.7207A>T
ENST00000374647.9:c.2738A>T	ENSP00000363779.5:p.Asp913Val
ENST00000537196.1:c.1691A>T	ENSP00000439367.1:p.Asp564Val
NM_003640.3:c.2738A>T , LRG_251t1:c.2738A>T	NP_003631.2:p.Asp913Val
XM_005252285.2:c.2396A>T	XP_005252342.1:p.Asp799Val
XM_011519136.1:c.2738A>T	XP_011517438.1:p.Asp913Val
XM_011519137.1:c.2396A>T	XP_011517439.1:p.Asp799Val
XR_929859.1:n.3116A>T
NM_001318360.1:c.2396A>T	NP_001305289.1:p.Asp799Val
NM_001330749.1:c.1691A>T	NP_001317678.1:p.Asp564Val
NM_003640.4:c.2738A>T	NP_003631.2:p.Asp913Val
XM_011519136.2:c.2738A>T	XP_011517438.1:p.Asp913Val
XR_929859.3:n.3127A>T
NM_003640.5:c.2738A>T MANE Select	NP_003631.2:p.Asp913Val
NM_001318360.2:c.2396A>T	NP_001305289.1:p.Asp799Val
NM_001330749.2:c.1691A>T	NP_001317678.1:p.Asp564Val