Canonical Allele Identifier: CA356536819

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146442A>G (hg19) ; chr4:g.25144820A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144820A>G , CM000666.2:g.25144820A>G	GRCh38
NC_000004.11:g.25146442A>G , CM000666.1:g.25146442A>G	GRCh37
NC_000004.10:g.24755540A>G	NCBI36
NG_028222.1:g.20763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.980T>C MANE Select	ENSP00000371535.2:p.Leu327Ser
ENST00000680581.1:c.980T>C	ENSP00000506483.1:p.Leu327Ser
ENST00000680824.1:n.2196T>C
ENST00000681071.1:n.1272T>C
ENST00000681341.1:n.2121T>C
ENST00000681948.1:c.1235T>C	ENSP00000505991.1:p.Leu412Ser
ENST00000358971.7:c.*778T>C	ENSP00000351857.3:n.*778T>C
ENST00000382103.6:c.980T>C	ENSP00000371535.2:p.Leu327Ser
ENST00000503150.1:c.262T>C
ENST00000505513.1:n.280T>C
ENST00000514585.5:c.*681T>C	ENSP00000421880.1:n.*681T>C
NM_016955.3:c.980T>C	NP_058651.3:p.Leu327Ser
XM_005248168.2:c.743T>C	XP_005248225.1:p.Leu248Ser
XM_006713965.2:c.800T>C	XP_006714028.1:p.Leu267Ser
XM_011513846.1:c.977T>C	XP_011512148.1:p.Leu326Ser
XM_011513847.1:c.947T>C	XP_011512149.1:p.Leu316Ser
XM_011513848.1:c.800T>C	XP_011512150.1:p.Leu267Ser
XM_011513846.2:c.977T>C	XP_011512148.1:p.Leu326Ser
XM_011513847.2:c.947T>C	XP_011512149.1:p.Leu316Ser
XM_017008277.1:c.1235T>C	XP_016863766.1:p.Leu412Ser
XM_017008278.1:c.557T>C	XP_016863767.1:p.Leu186Ser
NM_016955.4:c.980T>C MANE Select	NP_058651.3:p.Leu327Ser