Canonical Allele Identifier: CA438732306

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146443A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144821A>G , CM000666.2:g.25144821A>G	GRCh38
NC_000004.11:g.25146443A>G , CM000666.1:g.25146443A>G	GRCh37
NC_000004.10:g.24755541A>G	NCBI36
NG_028222.1:g.20762T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.979T>C MANE Select	ENSP00000371535.2:p.Leu327=
ENST00000680581.1:c.979T>C	ENSP00000506483.1:p.Leu327=
ENST00000680824.1:n.2195T>C
ENST00000681071.1:n.1271T>C
ENST00000681341.1:n.2120T>C
ENST00000681948.1:c.1234T>C	ENSP00000505991.1:p.Leu412=
ENST00000358971.7:c.*777T>C	ENSP00000351857.3:n.*777T>C
ENST00000382103.6:c.979T>C	ENSP00000371535.2:p.Leu327=
ENST00000503150.1:c.261T>C
ENST00000505513.1:n.279T>C
ENST00000514585.5:c.*680T>C	ENSP00000421880.1:n.*680T>C
NM_016955.3:c.979T>C	NP_058651.3:p.Leu327=
XM_005248168.2:c.742T>C	XP_005248225.1:p.Leu248=
XM_006713965.2:c.799T>C	XP_006714028.1:p.Leu267=
XM_011513846.1:c.976T>C	XP_011512148.1:p.Leu326=
XM_011513847.1:c.946T>C	XP_011512149.1:p.Leu316=
XM_011513848.1:c.799T>C	XP_011512150.1:p.Leu267=
XM_011513846.2:c.976T>C	XP_011512148.1:p.Leu326=
XM_011513847.2:c.946T>C	XP_011512149.1:p.Leu316=
XM_017008277.1:c.1234T>C	XP_016863766.1:p.Leu412=
XM_017008278.1:c.556T>C	XP_016863767.1:p.Leu186=
NM_016955.4:c.979T>C MANE Select	NP_058651.3:p.Leu327=