Canonical Allele Identifier: CA356536838

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146446A>T (hg19) ; chr4:g.25144824A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144824A>T , CM000666.2:g.25144824A>T	GRCh38
NC_000004.11:g.25146446A>T , CM000666.1:g.25146446A>T	GRCh37
NC_000004.10:g.24755544A>T	NCBI36
NG_028222.1:g.20759T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.976T>A MANE Select	ENSP00000371535.2:p.Leu326Ile
ENST00000680581.1:c.976T>A	ENSP00000506483.1:p.Leu326Ile
ENST00000680824.1:n.2192T>A
ENST00000681071.1:n.1268T>A
ENST00000681341.1:n.2117T>A
ENST00000681948.1:c.1231T>A	ENSP00000505991.1:p.Leu411Ile
ENST00000358971.7:c.*774T>A	ENSP00000351857.3:n.*774T>A
ENST00000382103.6:c.976T>A	ENSP00000371535.2:p.Leu326Ile
ENST00000503150.1:c.258T>A
ENST00000505513.1:n.276T>A
ENST00000514585.5:c.*677T>A	ENSP00000421880.1:n.*677T>A
NM_016955.3:c.976T>A	NP_058651.3:p.Leu326Ile
XM_005248168.2:c.739T>A	XP_005248225.1:p.Leu247Ile
XM_006713965.2:c.796T>A	XP_006714028.1:p.Leu266Ile
XM_011513846.1:c.973T>A	XP_011512148.1:p.Leu325Ile
XM_011513847.1:c.943T>A	XP_011512149.1:p.Leu315Ile
XM_011513848.1:c.796T>A	XP_011512150.1:p.Leu266Ile
XM_011513846.2:c.973T>A	XP_011512148.1:p.Leu325Ile
XM_011513847.2:c.943T>A	XP_011512149.1:p.Leu315Ile
XM_017008277.1:c.1231T>A	XP_016863766.1:p.Leu411Ile
XM_017008278.1:c.553T>A	XP_016863767.1:p.Leu185Ile
NM_016955.4:c.976T>A MANE Select	NP_058651.3:p.Leu326Ile