Canonical Allele Identifier: CA374411558

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641732A>G (hg19) ; chr9:g.108879452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879452A>G , CM000671.2:g.108879452A>G	GRCh38
NC_000009.11:g.111641732A>G , CM000671.1:g.111641732A>G	GRCh37
NC_000009.10:g.110681553A>G	NCBI36
NG_008788.1:g.59877T>C , LRG_251:g.59877T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3566T>C MANE Select	ENSP00000363779.5:p.Ile1189Thr
ENST00000495759.6:c.*2176T>C	ENSP00000433514.2:n.*2176T>C
ENST00000674535.1:c.3566T>C	ENSP00000502142.1:p.Ile1189Thr
ENST00000674704.1:n.6651T>C
ENST00000674740.1:n.449T>C
ENST00000674836.1:n.4179T>C
ENST00000674890.1:c.*801T>C	ENSP00000501870.1:n.*801T>C
ENST00000674938.1:c.3224T>C	ENSP00000502427.1:p.Ile1075Thr
ENST00000674948.1:c.3224T>C	ENSP00000501602.1:p.Ile1075Thr
ENST00000675052.1:c.3566T>C	ENSP00000502664.1:p.Ile1189Thr
ENST00000675062.1:n.612T>C
ENST00000675078.1:c.3566T>C	ENSP00000501549.1:p.Ile1189Thr
ENST00000675215.1:c.*2790T>C	ENSP00000502558.1:n.*2790T>C
ENST00000675233.1:n.5393T>C
ENST00000675321.1:c.3460+600T>C	ENSP00000502751.1:n.3460+600T>C
ENST00000675325.1:n.5523T>C
ENST00000675335.1:c.3597T>C	ENSP00000502182.1:n.3597T>C
ENST00000675400.1:n.5418T>C
ENST00000675406.1:c.3566T>C	ENSP00000501893.1:p.Ile1189Thr
ENST00000675458.1:c.3659T>C	ENSP00000501754.1:n.3659T>C
ENST00000675507.1:n.5362T>C
ENST00000675535.1:c.*1193T>C	ENSP00000501667.1:n.*1193T>C
ENST00000675566.1:n.5424T>C
ENST00000675580.1:n.719T>C
ENST00000675602.1:n.6614T>C
ENST00000675647.1:n.4730T>C
ENST00000675711.1:c.3683T>C	ENSP00000502485.1:n.3683T>C
ENST00000675727.1:c.3566T>C	ENSP00000501722.1:p.Ile1189Thr
ENST00000675748.1:n.5200T>C
ENST00000675765.1:c.*949T>C	ENSP00000502640.1:n.*949T>C
ENST00000675825.1:c.3608T>C	ENSP00000502632.1:p.Ile1203Thr
ENST00000675877.1:n.5410T>C
ENST00000675893.1:c.*4635T>C	ENSP00000502001.1:n.*4635T>C
ENST00000675943.1:n.7181T>C
ENST00000675979.1:c.*2809T>C	ENSP00000502208.1:n.*2809T>C
ENST00000676044.1:c.*1226T>C	ENSP00000502378.1:n.*1226T>C
ENST00000676086.1:n.5351T>C
ENST00000676121.1:n.5394T>C
ENST00000676162.1:n.295T>C
ENST00000676237.1:c.3509T>C	ENSP00000501828.1:p.Ile1170Thr
ENST00000676416.1:c.3266T>C	ENSP00000501660.1:p.Ile1089Thr
ENST00000676424.1:n.5404T>C
ENST00000676429.1:n.8035T>C
ENST00000374647.9:c.3566T>C	ENSP00000363779.5:p.Ile1189Thr
ENST00000495759.5:c.706T>C
ENST00000537196.1:c.2519T>C	ENSP00000439367.1:p.Ile840Thr
NM_003640.3:c.3566T>C , LRG_251t1:c.3566T>C	NP_003631.2:p.Ile1189Thr
XM_005252285.2:c.3224T>C	XP_005252342.1:p.Ile1075Thr
XM_011519136.1:c.3608T>C	XP_011517438.1:p.Ile1203Thr
XM_011519137.1:c.3266T>C	XP_011517439.1:p.Ile1089Thr
NM_001318360.1:c.3224T>C	NP_001305289.1:p.Ile1075Thr
NM_001330749.1:c.2519T>C	NP_001317678.1:p.Ile840Thr
NM_003640.4:c.3566T>C	NP_003631.2:p.Ile1189Thr
XM_011519136.2:c.3608T>C	XP_011517438.1:p.Ile1203Thr
XR_929859.3:n.3955T>C
NM_003640.5:c.3566T>C MANE Select	NP_003631.2:p.Ile1189Thr
NM_001318360.2:c.3224T>C	NP_001305289.1:p.Ile1075Thr
NM_001330749.2:c.2519T>C	NP_001317678.1:p.Ile840Thr