Canonical Allele Identifier: CA356542543

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25158483A>G (hg19) ; chr4:g.25156861A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156861A>G , CM000666.2:g.25156861A>G	GRCh38
NC_000004.11:g.25158483A>G , CM000666.1:g.25158483A>G	GRCh37
NC_000004.10:g.24767581A>G	NCBI36
NG_028222.1:g.8722T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.383T>C MANE Select	ENSP00000371535.2:p.Leu128Pro
ENST00000680581.1:c.383T>C	ENSP00000506483.1:p.Leu128Pro
ENST00000680824.1:n.1599T>C
ENST00000681071.1:n.675T>C
ENST00000681166.1:n.1430T>C
ENST00000681341.1:n.1524T>C
ENST00000681640.1:n.477T>C
ENST00000681948.1:c.638T>C	ENSP00000505991.1:p.Leu213Pro
ENST00000358971.7:c.*181T>C	ENSP00000351857.3:n.*181T>C
ENST00000382103.6:c.383T>C	ENSP00000371535.2:p.Leu128Pro
ENST00000514585.5:c.*84T>C	ENSP00000421880.1:n.*84T>C
NM_016955.3:c.383T>C	NP_058651.3:p.Leu128Pro
XM_005248168.2:c.146T>C	XP_005248225.1:p.Leu49Pro
XM_006713965.2:c.203T>C	XP_006714028.1:p.Leu68Pro
XM_011513846.1:c.380T>C	XP_011512148.1:p.Leu127Pro
XM_011513847.1:c.350T>C	XP_011512149.1:p.Leu117Pro
XM_011513848.1:c.203T>C	XP_011512150.1:p.Leu68Pro
XM_011513846.2:c.380T>C	XP_011512148.1:p.Leu127Pro
XM_011513847.2:c.350T>C	XP_011512149.1:p.Leu117Pro
XM_017008277.1:c.638T>C	XP_016863766.1:p.Leu213Pro
XM_017008278.1:c.-41T>C	XP_016863767.1:n.-41T>C
NM_016955.4:c.383T>C MANE Select	NP_058651.3:p.Leu128Pro