Canonical Allele Identifier: CA466673554

Gene: ELP1

Linked Data

• ClinVar Variation Id: 2791080
• ClinVar RCV Id: RCV003672264
• dbSNP Id: rs1828444286
• gnomAD v3: 9-108894010-A-G
• gnomAD v4: 9-108894010-A-G
• MyVariant Identifiers: chr9:g.111656290A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108894010A>G , CM000671.2:g.108894010A>G	GRCh38
NC_000009.11:g.111656290A>G , CM000671.1:g.111656290A>G	GRCh37
NC_000009.10:g.110696111A>G	NCBI36
NG_008788.1:g.45319T>C , LRG_251:g.45319T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2793T>C MANE Select	ENSP00000363779.5:p.Tyr931=
ENST00000495759.6:c.*1403T>C	ENSP00000433514.2:n.*1403T>C
ENST00000674535.1:c.2793T>C	ENSP00000502142.1:p.Tyr931=
ENST00000674704.1:n.5878T>C
ENST00000674836.1:n.3406T>C
ENST00000674890.1:c.*28T>C	ENSP00000501870.1:n.*28T>C
ENST00000674938.1:c.2451T>C	ENSP00000502427.1:p.Tyr817=
ENST00000674948.1:c.2451T>C	ENSP00000501602.1:p.Tyr817=
ENST00000675052.1:c.2793T>C	ENSP00000502664.1:p.Tyr931=
ENST00000675078.1:c.2793T>C	ENSP00000501549.1:p.Tyr931=
ENST00000675215.1:c.*2017T>C	ENSP00000502558.1:n.*2017T>C
ENST00000675233.1:n.4620T>C
ENST00000675321.1:c.2793T>C	ENSP00000502751.1:p.Tyr931=
ENST00000675325.1:n.4750T>C
ENST00000675335.1:c.2824T>C	ENSP00000502182.1:n.2824T>C
ENST00000675400.1:n.4528T>C
ENST00000675406.1:c.2793T>C	ENSP00000501893.1:p.Tyr931=
ENST00000675458.1:c.2886T>C	ENSP00000501754.1:n.2886T>C
ENST00000675507.1:n.4589T>C
ENST00000675535.1:c.*420T>C	ENSP00000501667.1:n.*420T>C
ENST00000675566.1:n.4651T>C
ENST00000675602.1:n.5841T>C
ENST00000675647.1:n.3098T>C
ENST00000675711.1:c.2793T>C	ENSP00000502485.1:p.Tyr931=
ENST00000675727.1:c.2793T>C	ENSP00000501722.1:p.Tyr931=
ENST00000675748.1:n.4427T>C
ENST00000675765.1:c.*176T>C	ENSP00000502640.1:n.*176T>C
ENST00000675825.1:c.2793T>C	ENSP00000502632.1:p.Tyr931=
ENST00000675877.1:n.3098T>C
ENST00000675893.1:c.*3862T>C	ENSP00000502001.1:n.*3862T>C
ENST00000675943.1:n.6408T>C
ENST00000675979.1:c.*2036T>C	ENSP00000502208.1:n.*2036T>C
ENST00000676044.1:c.*453T>C	ENSP00000502378.1:n.*453T>C
ENST00000676086.1:n.4578T>C
ENST00000676121.1:n.4621T>C
ENST00000676237.1:c.2694T>C	ENSP00000501828.1:p.Tyr898=
ENST00000676416.1:c.2451T>C	ENSP00000501660.1:p.Tyr817=
ENST00000676424.1:n.4589T>C
ENST00000676429.1:n.7262T>C
ENST00000374647.9:c.2793T>C	ENSP00000363779.5:p.Tyr931=
ENST00000537196.1:c.1746T>C	ENSP00000439367.1:p.Tyr582=
NM_003640.3:c.2793T>C , LRG_251t1:c.2793T>C	NP_003631.2:p.Tyr931=
XM_005252285.2:c.2451T>C	XP_005252342.1:p.Tyr817=
XM_011519136.1:c.2793T>C	XP_011517438.1:p.Tyr931=
XM_011519137.1:c.2451T>C	XP_011517439.1:p.Tyr817=
XR_929859.1:n.3171T>C
NM_001318360.1:c.2451T>C	NP_001305289.1:p.Tyr817=
NM_001330749.1:c.1746T>C	NP_001317678.1:p.Tyr582=
NM_003640.4:c.2793T>C	NP_003631.2:p.Tyr931=
XM_011519136.2:c.2793T>C	XP_011517438.1:p.Tyr931=
XR_929859.3:n.3182T>C
NM_003640.5:c.2793T>C MANE Select	NP_003631.2:p.Tyr931=
NM_001318360.2:c.2451T>C	NP_001305289.1:p.Tyr817=
NM_001330749.2:c.1746T>C	NP_001317678.1:p.Tyr582=