Canonical Allele Identifier: CA356542560

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25158490T>G (hg19) ; chr4:g.25156868T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156868T>G , CM000666.2:g.25156868T>G	GRCh38
NC_000004.11:g.25158490T>G , CM000666.1:g.25158490T>G	GRCh37
NC_000004.10:g.24767588T>G	NCBI36
NG_028222.1:g.8715A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.376A>C MANE Select	ENSP00000371535.2:p.Ile126Leu
ENST00000680581.1:c.376A>C	ENSP00000506483.1:p.Ile126Leu
ENST00000680824.1:n.1592A>C
ENST00000681071.1:n.668A>C
ENST00000681166.1:n.1423A>C
ENST00000681341.1:n.1517A>C
ENST00000681640.1:n.470A>C
ENST00000681948.1:c.631A>C	ENSP00000505991.1:p.Ile211Leu
ENST00000358971.7:c.*174A>C	ENSP00000351857.3:n.*174A>C
ENST00000382103.6:c.376A>C	ENSP00000371535.2:p.Ile126Leu
ENST00000514585.5:c.*77A>C	ENSP00000421880.1:n.*77A>C
NM_016955.3:c.376A>C	NP_058651.3:p.Ile126Leu
XM_005248168.2:c.139A>C	XP_005248225.1:p.Ile47Leu
XM_006713965.2:c.196A>C	XP_006714028.1:p.Ile66Leu
XM_011513846.1:c.373A>C	XP_011512148.1:p.Ile125Leu
XM_011513847.1:c.343A>C	XP_011512149.1:p.Ile115Leu
XM_011513848.1:c.196A>C	XP_011512150.1:p.Ile66Leu
XM_011513846.2:c.373A>C	XP_011512148.1:p.Ile125Leu
XM_011513847.2:c.343A>C	XP_011512149.1:p.Ile115Leu
XM_017008277.1:c.631A>C	XP_016863766.1:p.Ile211Leu
XM_017008278.1:c.-48A>C	XP_016863767.1:n.-48A>C
NM_016955.4:c.376A>C MANE Select	NP_058651.3:p.Ile126Leu