Canonical Allele Identifier: CA356536911

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146464A>T (hg19) ; chr4:g.25144842A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144842A>T , CM000666.2:g.25144842A>T	GRCh38
NC_000004.11:g.25146464A>T , CM000666.1:g.25146464A>T	GRCh37
NC_000004.10:g.24755562A>T	NCBI36
NG_028222.1:g.20741T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.958T>A MANE Select	ENSP00000371535.2:p.Leu320Ile
ENST00000680581.1:c.958T>A	ENSP00000506483.1:p.Leu320Ile
ENST00000680824.1:n.2174T>A
ENST00000681071.1:n.1250T>A
ENST00000681341.1:n.2099T>A
ENST00000681948.1:c.1213T>A	ENSP00000505991.1:p.Leu405Ile
ENST00000358971.7:c.*756T>A	ENSP00000351857.3:n.*756T>A
ENST00000382103.6:c.958T>A	ENSP00000371535.2:p.Leu320Ile
ENST00000503150.1:c.240T>A
ENST00000505513.1:n.258T>A
ENST00000514585.5:c.*659T>A	ENSP00000421880.1:n.*659T>A
NM_016955.3:c.958T>A	NP_058651.3:p.Leu320Ile
XM_005248168.2:c.721T>A	XP_005248225.1:p.Leu241Ile
XM_006713965.2:c.778T>A	XP_006714028.1:p.Leu260Ile
XM_011513846.1:c.955T>A	XP_011512148.1:p.Leu319Ile
XM_011513847.1:c.925T>A	XP_011512149.1:p.Leu309Ile
XM_011513848.1:c.778T>A	XP_011512150.1:p.Leu260Ile
XM_011513846.2:c.955T>A	XP_011512148.1:p.Leu319Ile
XM_011513847.2:c.925T>A	XP_011512149.1:p.Leu309Ile
XM_017008277.1:c.1213T>A	XP_016863766.1:p.Leu405Ile
XM_017008278.1:c.535T>A	XP_016863767.1:p.Leu179Ile
NM_016955.4:c.958T>A MANE Select	NP_058651.3:p.Leu320Ile