Canonical Allele Identifier: CA374423017

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111662120A>C (hg19) ; chr9:g.108899840A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899840A>C , CM000671.2:g.108899840A>C	GRCh38
NC_000009.11:g.111662120A>C , CM000671.1:g.111662120A>C	GRCh37
NC_000009.10:g.110701941A>C	NCBI36
NG_008788.1:g.39489T>G , LRG_251:g.39489T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2186T>G MANE Select	ENSP00000363779.5:p.Ile729Ser
ENST00000495759.6:c.*796T>G	ENSP00000433514.2:n.*796T>G
ENST00000674535.1:c.2186T>G	ENSP00000502142.1:p.Ile729Ser
ENST00000674704.1:n.3993T>G
ENST00000674836.1:n.2491T>G
ENST00000674890.1:c.2186T>G	ENSP00000501870.1:p.Ile729Ser
ENST00000674938.1:c.1844T>G	ENSP00000502427.1:p.Ile615Ser
ENST00000674948.1:c.1844T>G	ENSP00000501602.1:p.Ile615Ser
ENST00000675052.1:c.2186T>G	ENSP00000502664.1:p.Ile729Ser
ENST00000675078.1:c.2186T>G	ENSP00000501549.1:p.Ile729Ser
ENST00000675215.1:c.*1410T>G	ENSP00000502558.1:n.*1410T>G
ENST00000675233.1:n.4013T>G
ENST00000675321.1:c.2186T>G	ENSP00000502751.1:p.Ile729Ser
ENST00000675325.1:n.3982T>G
ENST00000675335.1:c.2217T>G	ENSP00000502182.1:n.2217T>G
ENST00000675400.1:n.3859T>G
ENST00000675406.1:c.2186T>G	ENSP00000501893.1:p.Ile729Ser
ENST00000675458.1:c.2279T>G	ENSP00000501754.1:n.2279T>G
ENST00000675507.1:n.3982T>G
ENST00000675535.1:c.2186T>G	ENSP00000501667.1:p.Ile729Ser
ENST00000675566.1:n.3982T>G
ENST00000675602.1:n.5234T>G
ENST00000675647.1:n.2491T>G
ENST00000675711.1:c.2186T>G	ENSP00000502485.1:p.Ile729Ser
ENST00000675727.1:c.2186T>G	ENSP00000501722.1:p.Ile729Ser
ENST00000675748.1:n.3820T>G
ENST00000675765.1:c.2186T>G	ENSP00000502640.1:p.Ile729Ser
ENST00000675825.1:c.2186T>G	ENSP00000502632.1:p.Ile729Ser
ENST00000675877.1:n.2491T>G
ENST00000675893.1:c.*3255T>G	ENSP00000502001.1:n.*3255T>G
ENST00000675943.1:n.5801T>G
ENST00000675979.1:c.*1429T>G	ENSP00000502208.1:n.*1429T>G
ENST00000676044.1:c.2186T>G	ENSP00000502378.1:p.Ile729Ser
ENST00000676086.1:n.3971T>G
ENST00000676121.1:n.4014T>G
ENST00000676237.1:c.2087T>G	ENSP00000501828.1:p.Ile696Ser
ENST00000676416.1:c.1844T>G	ENSP00000501660.1:p.Ile615Ser
ENST00000676424.1:n.3982T>G
ENST00000676429.1:n.6655T>G
ENST00000374647.9:c.2186T>G	ENSP00000363779.5:p.Ile729Ser
ENST00000537196.1:c.1139T>G	ENSP00000439367.1:p.Ile380Ser
NM_003640.3:c.2186T>G , LRG_251t1:c.2186T>G	NP_003631.2:p.Ile729Ser
XM_005252285.2:c.1844T>G	XP_005252342.1:p.Ile615Ser
XM_011519136.1:c.2186T>G	XP_011517438.1:p.Ile729Ser
XM_011519137.1:c.1844T>G	XP_011517439.1:p.Ile615Ser
XR_929859.1:n.2502T>G
NM_001318360.1:c.1844T>G	NP_001305289.1:p.Ile615Ser
NM_001330749.1:c.1139T>G	NP_001317678.1:p.Ile380Ser
NM_003640.4:c.2186T>G	NP_003631.2:p.Ile729Ser
XM_011519136.2:c.2186T>G	XP_011517438.1:p.Ile729Ser
XR_929859.3:n.2513T>G
NM_003640.5:c.2186T>G MANE Select	NP_003631.2:p.Ile729Ser
NM_001318360.2:c.1844T>G	NP_001305289.1:p.Ile615Ser
NM_001330749.2:c.1139T>G	NP_001317678.1:p.Ile380Ser