Canonical Allele Identifier: CA374411637

Gene: ELP1

Linked Data

• gnomAD v4: 9-108879468-G-A
• MyVariant Identifiers: chr9:g.111641748G>A (hg19) ; chr9:g.108879468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879468G>A , CM000671.2:g.108879468G>A	GRCh38
NC_000009.11:g.111641748G>A , CM000671.1:g.111641748G>A	GRCh37
NC_000009.10:g.110681569G>A	NCBI36
NG_008788.1:g.59861C>T , LRG_251:g.59861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3550C>T MANE Select	ENSP00000363779.5:p.His1184Tyr
ENST00000495759.6:c.*2160C>T	ENSP00000433514.2:n.*2160C>T
ENST00000674535.1:c.3550C>T	ENSP00000502142.1:p.His1184Tyr
ENST00000674704.1:n.6635C>T
ENST00000674740.1:n.433C>T
ENST00000674836.1:n.4163C>T
ENST00000674890.1:c.*785C>T	ENSP00000501870.1:n.*785C>T
ENST00000674938.1:c.3208C>T	ENSP00000502427.1:p.His1070Tyr
ENST00000674948.1:c.3208C>T	ENSP00000501602.1:p.His1070Tyr
ENST00000675052.1:c.3550C>T	ENSP00000502664.1:p.His1184Tyr
ENST00000675062.1:n.596C>T
ENST00000675078.1:c.3550C>T	ENSP00000501549.1:p.His1184Tyr
ENST00000675215.1:c.*2774C>T	ENSP00000502558.1:n.*2774C>T
ENST00000675233.1:n.5377C>T
ENST00000675321.1:c.3460+584C>T	ENSP00000502751.1:n.3460+584C>T
ENST00000675325.1:n.5507C>T
ENST00000675335.1:c.3581C>T	ENSP00000502182.1:n.3581C>T
ENST00000675400.1:n.5402C>T
ENST00000675406.1:c.3550C>T	ENSP00000501893.1:p.His1184Tyr
ENST00000675458.1:c.3643C>T	ENSP00000501754.1:n.3643C>T
ENST00000675507.1:n.5346C>T
ENST00000675535.1:c.*1177C>T	ENSP00000501667.1:n.*1177C>T
ENST00000675566.1:n.5408C>T
ENST00000675580.1:n.703C>T
ENST00000675602.1:n.6598C>T
ENST00000675647.1:n.4714C>T
ENST00000675711.1:c.3667C>T	ENSP00000502485.1:n.3667C>T
ENST00000675727.1:c.3550C>T	ENSP00000501722.1:p.His1184Tyr
ENST00000675748.1:n.5184C>T
ENST00000675765.1:c.*933C>T	ENSP00000502640.1:n.*933C>T
ENST00000675825.1:c.3592C>T	ENSP00000502632.1:p.His1198Tyr
ENST00000675877.1:n.5394C>T
ENST00000675893.1:c.*4619C>T	ENSP00000502001.1:n.*4619C>T
ENST00000675943.1:n.7165C>T
ENST00000675979.1:c.*2793C>T	ENSP00000502208.1:n.*2793C>T
ENST00000676044.1:c.*1210C>T	ENSP00000502378.1:n.*1210C>T
ENST00000676086.1:n.5335C>T
ENST00000676121.1:n.5378C>T
ENST00000676162.1:n.279C>T
ENST00000676237.1:c.3493C>T	ENSP00000501828.1:p.His1165Tyr
ENST00000676416.1:c.3250C>T	ENSP00000501660.1:p.His1084Tyr
ENST00000676424.1:n.5388C>T
ENST00000676429.1:n.8019C>T
ENST00000374647.9:c.3550C>T	ENSP00000363779.5:p.His1184Tyr
ENST00000467959.1:n.430C>T
ENST00000495759.5:c.690C>T
ENST00000537196.1:c.2503C>T	ENSP00000439367.1:p.His835Tyr
NM_003640.3:c.3550C>T , LRG_251t1:c.3550C>T	NP_003631.2:p.His1184Tyr
XM_005252285.2:c.3208C>T	XP_005252342.1:p.His1070Tyr
XM_011519136.1:c.3592C>T	XP_011517438.1:p.His1198Tyr
XM_011519137.1:c.3250C>T	XP_011517439.1:p.His1084Tyr
NM_001318360.1:c.3208C>T	NP_001305289.1:p.His1070Tyr
NM_001330749.1:c.2503C>T	NP_001317678.1:p.His835Tyr
NM_003640.4:c.3550C>T	NP_003631.2:p.His1184Tyr
XM_011519136.2:c.3592C>T	XP_011517438.1:p.His1198Tyr
XR_929859.3:n.3939C>T
NM_003640.5:c.3550C>T MANE Select	NP_003631.2:p.His1184Tyr
NM_001318360.2:c.3208C>T	NP_001305289.1:p.His1070Tyr
NM_001330749.2:c.2503C>T	NP_001317678.1:p.His835Tyr