Canonical Allele Identifier: CA356536903

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146462T>A (hg19) ; chr4:g.25144840T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144840T>A , CM000666.2:g.25144840T>A	GRCh38
NC_000004.11:g.25146462T>A , CM000666.1:g.25146462T>A	GRCh37
NC_000004.10:g.24755560T>A	NCBI36
NG_028222.1:g.20743A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.960A>T MANE Select	ENSP00000371535.2:p.Leu320Phe
ENST00000680581.1:c.960A>T	ENSP00000506483.1:p.Leu320Phe
ENST00000680824.1:n.2176A>T
ENST00000681071.1:n.1252A>T
ENST00000681341.1:n.2101A>T
ENST00000681948.1:c.1215A>T	ENSP00000505991.1:p.Leu405Phe
ENST00000358971.7:c.*758A>T	ENSP00000351857.3:n.*758A>T
ENST00000382103.6:c.960A>T	ENSP00000371535.2:p.Leu320Phe
ENST00000503150.1:c.242A>T
ENST00000505513.1:n.260A>T
ENST00000514585.5:c.*661A>T	ENSP00000421880.1:n.*661A>T
NM_016955.3:c.960A>T	NP_058651.3:p.Leu320Phe
XM_005248168.2:c.723A>T	XP_005248225.1:p.Leu241Phe
XM_006713965.2:c.780A>T	XP_006714028.1:p.Leu260Phe
XM_011513846.1:c.957A>T	XP_011512148.1:p.Leu319Phe
XM_011513847.1:c.927A>T	XP_011512149.1:p.Leu309Phe
XM_011513848.1:c.780A>T	XP_011512150.1:p.Leu260Phe
XM_011513846.2:c.957A>T	XP_011512148.1:p.Leu319Phe
XM_011513847.2:c.927A>T	XP_011512149.1:p.Leu309Phe
XM_017008277.1:c.1215A>T	XP_016863766.1:p.Leu405Phe
XM_017008278.1:c.537A>T	XP_016863767.1:p.Leu179Phe
NM_016955.4:c.960A>T MANE Select	NP_058651.3:p.Leu320Phe