Canonical Allele Identifier: CA466672546

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641731T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879451T>G , CM000671.2:g.108879451T>G	GRCh38
NC_000009.11:g.111641731T>G , CM000671.1:g.111641731T>G	GRCh37
NC_000009.10:g.110681552T>G	NCBI36
NG_008788.1:g.59878A>C , LRG_251:g.59878A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3567A>C MANE Select	ENSP00000363779.5:p.Ile1189=
ENST00000495759.6:c.*2177A>C	ENSP00000433514.2:n.*2177A>C
ENST00000674535.1:c.3567A>C	ENSP00000502142.1:p.Ile1189=
ENST00000674704.1:n.6652A>C
ENST00000674740.1:n.450A>C
ENST00000674836.1:n.4180A>C
ENST00000674890.1:c.*802A>C	ENSP00000501870.1:n.*802A>C
ENST00000674938.1:c.3225A>C	ENSP00000502427.1:p.Ile1075=
ENST00000674948.1:c.3225A>C	ENSP00000501602.1:p.Ile1075=
ENST00000675052.1:c.3567A>C	ENSP00000502664.1:p.Ile1189=
ENST00000675062.1:n.613A>C
ENST00000675078.1:c.3567A>C	ENSP00000501549.1:p.Ile1189=
ENST00000675215.1:c.*2791A>C	ENSP00000502558.1:n.*2791A>C
ENST00000675233.1:n.5394A>C
ENST00000675321.1:c.3460+601A>C	ENSP00000502751.1:n.3460+601A>C
ENST00000675325.1:n.5524A>C
ENST00000675335.1:c.3598A>C	ENSP00000502182.1:n.3598A>C
ENST00000675400.1:n.5419A>C
ENST00000675406.1:c.3567A>C	ENSP00000501893.1:p.Ile1189=
ENST00000675458.1:c.3660A>C	ENSP00000501754.1:n.3660A>C
ENST00000675507.1:n.5363A>C
ENST00000675535.1:c.*1194A>C	ENSP00000501667.1:n.*1194A>C
ENST00000675566.1:n.5425A>C
ENST00000675580.1:n.720A>C
ENST00000675602.1:n.6615A>C
ENST00000675647.1:n.4731A>C
ENST00000675711.1:c.3684A>C	ENSP00000502485.1:n.3684A>C
ENST00000675727.1:c.3567A>C	ENSP00000501722.1:p.Ile1189=
ENST00000675748.1:n.5201A>C
ENST00000675765.1:c.*950A>C	ENSP00000502640.1:n.*950A>C
ENST00000675825.1:c.3609A>C	ENSP00000502632.1:p.Ile1203=
ENST00000675877.1:n.5411A>C
ENST00000675893.1:c.*4636A>C	ENSP00000502001.1:n.*4636A>C
ENST00000675943.1:n.7182A>C
ENST00000675979.1:c.*2810A>C	ENSP00000502208.1:n.*2810A>C
ENST00000676044.1:c.*1227A>C	ENSP00000502378.1:n.*1227A>C
ENST00000676086.1:n.5352A>C
ENST00000676121.1:n.5395A>C
ENST00000676162.1:n.296A>C
ENST00000676237.1:c.3510A>C	ENSP00000501828.1:p.Ile1170=
ENST00000676416.1:c.3267A>C	ENSP00000501660.1:p.Ile1089=
ENST00000676424.1:n.5405A>C
ENST00000676429.1:n.8036A>C
ENST00000374647.9:c.3567A>C	ENSP00000363779.5:p.Ile1189=
ENST00000495759.5:c.707A>C
ENST00000537196.1:c.2520A>C	ENSP00000439367.1:p.Ile840=
NM_003640.3:c.3567A>C , LRG_251t1:c.3567A>C	NP_003631.2:p.Ile1189=
XM_005252285.2:c.3225A>C	XP_005252342.1:p.Ile1075=
XM_011519136.1:c.3609A>C	XP_011517438.1:p.Ile1203=
XM_011519137.1:c.3267A>C	XP_011517439.1:p.Ile1089=
NM_001318360.1:c.3225A>C	NP_001305289.1:p.Ile1075=
NM_001330749.1:c.2520A>C	NP_001317678.1:p.Ile840=
NM_003640.4:c.3567A>C	NP_003631.2:p.Ile1189=
XM_011519136.2:c.3609A>C	XP_011517438.1:p.Ile1203=
XR_929859.3:n.3956A>C
NM_003640.5:c.3567A>C MANE Select	NP_003631.2:p.Ile1189=
NM_001318360.2:c.3225A>C	NP_001305289.1:p.Ile1075=
NM_001330749.2:c.2520A>C	NP_001317678.1:p.Ile840=