Canonical Allele Identifier: CA2877152

Gene: SEPSECS

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25124044G>A , CM000666.2:g.25124044G>A	GRCh38
NC_000004.11:g.25125666G>A , CM000666.1:g.25125666G>A	GRCh37
NC_000004.10:g.24734764G>A	NCBI36
NG_028222.1:g.41539C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016955.4:c.1393C>T MANE Select	NP_058651.3:p.Arg465Ter
ENST00000382103.7:c.1393C>T MANE Select	ENSP00000371535.2:p.Arg465Ter
NM_016955.3:c.1393C>T	NP_058651.3:p.Arg465Ter
ENST00000358971.7:c.*1191C>T	ENSP00000351857.3:n.*1191C>T
ENST00000382103.6:c.1393C>T	ENSP00000371535.2:p.Arg465Ter
ENST00000514585.5:c.*1094C>T	ENSP00000421880.1:n.*1094C>T
ENST00000680581.1:c.*267C>T	ENSP00000506483.1:n.*267C>T
ENST00000680824.1:n.2609C>T
ENST00000681071.1:n.1685C>T
ENST00000681341.1:n.2440C>T
ENST00000681374.1:n.749C>T
ENST00000681948.1:c.1648C>T	ENSP00000505991.1:p.Arg550Ter
XM_005248168.2:c.1156C>T	XP_005248225.1:p.Arg386Ter
XM_006713965.2:c.1213C>T	XP_006714028.1:p.Arg405Ter
XM_011513846.1:c.1390C>T	XP_011512148.1:p.Arg464Ter
XM_011513846.2:c.1390C>T	XP_011512148.1:p.Arg464Ter
XM_011513847.1:c.1360C>T	XP_011512149.1:p.Arg454Ter
XM_011513847.2:c.1360C>T	XP_011512149.1:p.Arg454Ter
XM_011513848.1:c.1213C>T	XP_011512150.1:p.Arg405Ter
XM_017008277.1:c.1648C>T	XP_016863766.1:p.Arg550Ter
XM_017008278.1:c.970C>T	XP_016863767.1:p.Arg324Ter