Canonical Allele Identifier: CA356536817

Gene: SEPSECS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.980T>G MANE Select	ENSP00000371535.2:p.Leu327Trp
ENST00000680581.1:c.980T>G	ENSP00000506483.1:p.Leu327Trp
ENST00000680824.1:n.2196T>G
ENST00000681071.1:n.1272T>G
ENST00000681341.1:n.2121T>G
ENST00000681948.1:c.1235T>G	ENSP00000505991.1:p.Leu412Trp
ENST00000358971.7:c.*778T>G	ENSP00000351857.3:n.*778T>G
ENST00000382103.6:c.980T>G	ENSP00000371535.2:p.Leu327Trp
ENST00000503150.1:c.262T>G
ENST00000505513.1:n.280T>G
ENST00000514585.5:c.*681T>G	ENSP00000421880.1:n.*681T>G
NM_016955.3:c.980T>G	NP_058651.3:p.Leu327Trp
XM_005248168.2:c.743T>G	XP_005248225.1:p.Leu248Trp
XM_006713965.2:c.800T>G	XP_006714028.1:p.Leu267Trp
XM_011513846.1:c.977T>G	XP_011512148.1:p.Leu326Trp
XM_011513847.1:c.947T>G	XP_011512149.1:p.Leu316Trp
XM_011513848.1:c.800T>G	XP_011512150.1:p.Leu267Trp
XM_011513846.2:c.977T>G	XP_011512148.1:p.Leu326Trp
XM_011513847.2:c.947T>G	XP_011512149.1:p.Leu316Trp
XM_017008277.1:c.1235T>G	XP_016863766.1:p.Leu412Trp
XM_017008278.1:c.557T>G	XP_016863767.1:p.Leu186Trp
NM_016955.4:c.980T>G MANE Select	NP_058651.3:p.Leu327Trp