Canonical Allele Identifier: CA858473178

Gene: ELP1

Linked Data

• dbSNP Id: rs1285181932
• gnomAD v4: 9-108899770-T-A
• MyVariant Identifiers: chr9:g.111662050T>A (hg19) ; chr9:g.108899770T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899770T>A , CM000671.2:g.108899770T>A	GRCh38
NC_000009.11:g.111662050T>A , CM000671.1:g.111662050T>A	GRCh37
NC_000009.10:g.110701871T>A	NCBI36
NG_008788.1:g.39559A>T , LRG_251:g.39559A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2204+52A>T MANE Select	ENSP00000363779.5:n.2204+52A>T
ENST00000495759.6:c.*814+52A>T	ENSP00000433514.2:n.*814+52A>T
ENST00000674535.1:c.2204+52A>T	ENSP00000502142.1:n.2204+52A>T
ENST00000674704.1:n.4011+52A>T
ENST00000674836.1:n.2509+52A>T
ENST00000674890.1:c.2204+52A>T	ENSP00000501870.1:n.2204+52A>T
ENST00000674938.1:c.1862+52A>T	ENSP00000502427.1:n.1862+52A>T
ENST00000674948.1:c.1862+52A>T	ENSP00000501602.1:n.1862+52A>T
ENST00000675052.1:c.2204+52A>T	ENSP00000502664.1:n.2204+52A>T
ENST00000675078.1:c.2204+52A>T	ENSP00000501549.1:n.2204+52A>T
ENST00000675215.1:c.*1428+52A>T	ENSP00000502558.1:n.*1428+52A>T
ENST00000675233.1:n.4031+52A>T
ENST00000675321.1:c.2204+52A>T	ENSP00000502751.1:n.2204+52A>T
ENST00000675325.1:n.4000+52A>T
ENST00000675335.1:c.2235+52A>T	ENSP00000502182.1:n.2235+52A>T
ENST00000675400.1:n.3877+52A>T
ENST00000675406.1:c.2204+52A>T	ENSP00000501893.1:n.2204+52A>T
ENST00000675458.1:c.2297+52A>T	ENSP00000501754.1:n.2297+52A>T
ENST00000675507.1:n.4000+52A>T
ENST00000675535.1:c.2204+52A>T	ENSP00000501667.1:n.2204+52A>T
ENST00000675566.1:n.4000+52A>T
ENST00000675602.1:n.5252+52A>T
ENST00000675647.1:n.2509+52A>T
ENST00000675711.1:c.2204+52A>T	ENSP00000502485.1:n.2204+52A>T
ENST00000675727.1:c.2204+52A>T	ENSP00000501722.1:n.2204+52A>T
ENST00000675748.1:n.3838+52A>T
ENST00000675765.1:c.2204+52A>T	ENSP00000502640.1:n.2204+52A>T
ENST00000675825.1:c.2204+52A>T	ENSP00000502632.1:n.2204+52A>T
ENST00000675877.1:n.2509+52A>T
ENST00000675893.1:c.*3273+52A>T	ENSP00000502001.1:n.*3273+52A>T
ENST00000675943.1:n.5819+52A>T
ENST00000675979.1:c.*1447+52A>T	ENSP00000502208.1:n.*1447+52A>T
ENST00000676044.1:c.2204+52A>T	ENSP00000502378.1:n.2204+52A>T
ENST00000676086.1:n.3989+52A>T
ENST00000676121.1:n.4032+52A>T
ENST00000676237.1:c.2105+52A>T	ENSP00000501828.1:n.2105+52A>T
ENST00000676416.1:c.1862+52A>T	ENSP00000501660.1:n.1862+52A>T
ENST00000676424.1:n.4000+52A>T
ENST00000676429.1:n.6673+52A>T
ENST00000374647.9:c.2204+52A>T	ENSP00000363779.5:n.2204+52A>T
ENST00000537196.1:c.1157+52A>T	ENSP00000439367.1:n.1157+52A>T
NM_003640.3:c.2204+52A>T , LRG_251t1:c.2204+52A>T	NP_003631.2:n.2204+52A>T
XM_005252285.2:c.1862+52A>T	XP_005252342.1:n.1862+52A>T
XM_011519136.1:c.2204+52A>T	XP_011517438.1:n.2204+52A>T
XM_011519137.1:c.1862+52A>T	XP_011517439.1:n.1862+52A>T
XR_929859.1:n.2520+52A>T
NM_001318360.1:c.1862+52A>T	NP_001305289.1:n.1862+52A>T
NM_001330749.1:c.1157+52A>T	NP_001317678.1:n.1157+52A>T
NM_003640.4:c.2204+52A>T	NP_003631.2:n.2204+52A>T
XM_011519136.2:c.2204+52A>T	XP_011517438.1:n.2204+52A>T
XR_929859.3:n.2531+52A>T
NM_003640.5:c.2204+52A>T MANE Select	NP_003631.2:n.2204+52A>T
NM_001318360.2:c.1862+52A>T	NP_001305289.1:n.1862+52A>T
NM_001330749.2:c.1157+52A>T	NP_001317678.1:n.1157+52A>T