Canonical Allele Identifier: CA197520114

Gene: ELP1

Linked Data

• dbSNP Id: rs914090840
• gnomAD v4: 9-108879361-T-C
• MyVariant Identifiers: chr9:g.111641641T>C (hg19) ; chr9:g.108879361T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879361T>C , CM000671.2:g.108879361T>C	GRCh38
NC_000009.11:g.111641641T>C , CM000671.1:g.111641641T>C	GRCh37
NC_000009.10:g.110681462T>C	NCBI36
NG_008788.1:g.59968A>G , LRG_251:g.59968A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3572+85A>G MANE Select	ENSP00000363779.5:n.3572+85A>G
ENST00000495759.6:c.*2182+85A>G	ENSP00000433514.2:n.*2182+85A>G
ENST00000674535.1:c.3572+85A>G	ENSP00000502142.1:n.3572+85A>G
ENST00000674704.1:n.6657+85A>G
ENST00000674740.1:n.455+85A>G
ENST00000674836.1:n.4185+85A>G
ENST00000674890.1:c.*807+85A>G	ENSP00000501870.1:n.*807+85A>G
ENST00000674938.1:c.3230+85A>G	ENSP00000502427.1:n.3230+85A>G
ENST00000674948.1:c.3230+85A>G	ENSP00000501602.1:n.3230+85A>G
ENST00000675052.1:c.3572+85A>G	ENSP00000502664.1:n.3572+85A>G
ENST00000675062.1:n.618+85A>G
ENST00000675078.1:c.3572+85A>G	ENSP00000501549.1:n.3572+85A>G
ENST00000675215.1:c.*2796+85A>G	ENSP00000502558.1:n.*2796+85A>G
ENST00000675233.1:n.5399+85A>G
ENST00000675321.1:c.3461-611A>G	ENSP00000502751.1:n.3461-611A>G
ENST00000675325.1:n.5529+85A>G
ENST00000675335.1:c.3603+85A>G	ENSP00000502182.1:n.3603+85A>G
ENST00000675400.1:n.5424+85A>G
ENST00000675406.1:c.3572+85A>G	ENSP00000501893.1:n.3572+85A>G
ENST00000675458.1:c.3665+85A>G	ENSP00000501754.1:n.3665+85A>G
ENST00000675507.1:n.5368+85A>G
ENST00000675535.1:c.*1199+85A>G	ENSP00000501667.1:n.*1199+85A>G
ENST00000675566.1:n.5430+85A>G
ENST00000675580.1:n.725+85A>G
ENST00000675602.1:n.6620+85A>G
ENST00000675647.1:n.4736+85A>G
ENST00000675711.1:c.3689+85A>G	ENSP00000502485.1:n.3689+85A>G
ENST00000675727.1:c.3572+85A>G	ENSP00000501722.1:n.3572+85A>G
ENST00000675748.1:n.5206+85A>G
ENST00000675765.1:c.*955+85A>G	ENSP00000502640.1:n.*955+85A>G
ENST00000675825.1:c.3614+85A>G	ENSP00000502632.1:n.3614+85A>G
ENST00000675877.1:n.5416+85A>G
ENST00000675893.1:c.*4641+85A>G	ENSP00000502001.1:n.*4641+85A>G
ENST00000675943.1:n.7187+85A>G
ENST00000675979.1:c.*2815+85A>G	ENSP00000502208.1:n.*2815+85A>G
ENST00000676044.1:c.*1232+85A>G	ENSP00000502378.1:n.*1232+85A>G
ENST00000676086.1:n.5357+85A>G
ENST00000676121.1:n.5400+85A>G
ENST00000676162.1:n.301+85A>G
ENST00000676237.1:c.3515+85A>G	ENSP00000501828.1:n.3515+85A>G
ENST00000676416.1:c.3272+85A>G	ENSP00000501660.1:n.3272+85A>G
ENST00000676424.1:n.5410+85A>G
ENST00000676429.1:n.8041+85A>G
ENST00000374647.9:c.3572+85A>G	ENSP00000363779.5:n.3572+85A>G
ENST00000495759.5:c.712+85A>G
ENST00000537196.1:c.2525+85A>G	ENSP00000439367.1:n.2525+85A>G
NM_003640.3:c.3572+85A>G , LRG_251t1:c.3572+85A>G	NP_003631.2:n.3572+85A>G
XM_005252285.2:c.3230+85A>G	XP_005252342.1:n.3230+85A>G
XM_011519136.1:c.3614+85A>G	XP_011517438.1:n.3614+85A>G
XM_011519137.1:c.3272+85A>G	XP_011517439.1:n.3272+85A>G
NM_001318360.1:c.3230+85A>G	NP_001305289.1:n.3230+85A>G
NM_001330749.1:c.2525+85A>G	NP_001317678.1:n.2525+85A>G
NM_003640.4:c.3572+85A>G	NP_003631.2:n.3572+85A>G
XM_011519136.2:c.3614+85A>G	XP_011517438.1:n.3614+85A>G
XR_929859.3:n.3961+85A>G
NM_003640.5:c.3572+85A>G MANE Select	NP_003631.2:n.3572+85A>G
NM_001318360.2:c.3230+85A>G	NP_001305289.1:n.3230+85A>G
NM_001330749.2:c.2525+85A>G	NP_001317678.1:n.2525+85A>G