Canonical Allele Identifier: CA356536828

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146444T>A (hg19) ; chr4:g.25144822T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144822T>A , CM000666.2:g.25144822T>A	GRCh38
NC_000004.11:g.25146444T>A , CM000666.1:g.25146444T>A	GRCh37
NC_000004.10:g.24755542T>A	NCBI36
NG_028222.1:g.20761A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.978A>T MANE Select	ENSP00000371535.2:p.Leu326Phe
ENST00000680581.1:c.978A>T	ENSP00000506483.1:p.Leu326Phe
ENST00000680824.1:n.2194A>T
ENST00000681071.1:n.1270A>T
ENST00000681341.1:n.2119A>T
ENST00000681948.1:c.1233A>T	ENSP00000505991.1:p.Leu411Phe
ENST00000358971.7:c.*776A>T	ENSP00000351857.3:n.*776A>T
ENST00000382103.6:c.978A>T	ENSP00000371535.2:p.Leu326Phe
ENST00000503150.1:c.260A>T
ENST00000505513.1:n.278A>T
ENST00000514585.5:c.*679A>T	ENSP00000421880.1:n.*679A>T
NM_016955.3:c.978A>T	NP_058651.3:p.Leu326Phe
XM_005248168.2:c.741A>T	XP_005248225.1:p.Leu247Phe
XM_006713965.2:c.798A>T	XP_006714028.1:p.Leu266Phe
XM_011513846.1:c.975A>T	XP_011512148.1:p.Leu325Phe
XM_011513847.1:c.945A>T	XP_011512149.1:p.Leu315Phe
XM_011513848.1:c.798A>T	XP_011512150.1:p.Leu266Phe
XM_011513846.2:c.975A>T	XP_011512148.1:p.Leu325Phe
XM_011513847.2:c.945A>T	XP_011512149.1:p.Leu315Phe
XM_017008277.1:c.1233A>T	XP_016863766.1:p.Leu411Phe
XM_017008278.1:c.555A>T	XP_016863767.1:p.Leu185Phe
NM_016955.4:c.978A>T MANE Select	NP_058651.3:p.Leu326Phe