Canonical Allele Identifier: CA356542576

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25158498A>T (hg19) ; chr4:g.25156876A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156876A>T , CM000666.2:g.25156876A>T	GRCh38
NC_000004.11:g.25158498A>T , CM000666.1:g.25158498A>T	GRCh37
NC_000004.10:g.24767596A>T	NCBI36
NG_028222.1:g.8707T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.368T>A MANE Select	ENSP00000371535.2:p.Leu123Gln
ENST00000680581.1:c.368T>A	ENSP00000506483.1:p.Leu123Gln
ENST00000680824.1:n.1584T>A
ENST00000681071.1:n.660T>A
ENST00000681166.1:n.1415T>A
ENST00000681341.1:n.1509T>A
ENST00000681640.1:n.462T>A
ENST00000681948.1:c.623T>A	ENSP00000505991.1:p.Leu208Gln
ENST00000358971.7:c.*166T>A	ENSP00000351857.3:n.*166T>A
ENST00000382103.6:c.368T>A	ENSP00000371535.2:p.Leu123Gln
ENST00000514585.5:c.*69T>A	ENSP00000421880.1:n.*69T>A
NM_016955.3:c.368T>A	NP_058651.3:p.Leu123Gln
XM_005248168.2:c.131T>A	XP_005248225.1:p.Leu44Gln
XM_006713965.2:c.188T>A	XP_006714028.1:p.Leu63Gln
XM_011513846.1:c.365T>A	XP_011512148.1:p.Leu122Gln
XM_011513847.1:c.335T>A	XP_011512149.1:p.Leu112Gln
XM_011513848.1:c.188T>A	XP_011512150.1:p.Leu63Gln
XM_011513846.2:c.365T>A	XP_011512148.1:p.Leu122Gln
XM_011513847.2:c.335T>A	XP_011512149.1:p.Leu112Gln
XM_017008277.1:c.623T>A	XP_016863766.1:p.Leu208Gln
XM_017008278.1:c.-56T>A	XP_016863767.1:n.-56T>A
NM_016955.4:c.368T>A MANE Select	NP_058651.3:p.Leu123Gln