Canonical Allele Identifier: CA356542574

Gene: SEPSECS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.368T>G MANE Select	ENSP00000371535.2:p.Leu123Arg
ENST00000680581.1:c.368T>G	ENSP00000506483.1:p.Leu123Arg
ENST00000680824.1:n.1584T>G
ENST00000681071.1:n.660T>G
ENST00000681166.1:n.1415T>G
ENST00000681341.1:n.1509T>G
ENST00000681640.1:n.462T>G
ENST00000681948.1:c.623T>G	ENSP00000505991.1:p.Leu208Arg
ENST00000358971.7:c.*166T>G	ENSP00000351857.3:n.*166T>G
ENST00000382103.6:c.368T>G	ENSP00000371535.2:p.Leu123Arg
ENST00000514585.5:c.*69T>G	ENSP00000421880.1:n.*69T>G
NM_016955.3:c.368T>G	NP_058651.3:p.Leu123Arg
XM_005248168.2:c.131T>G	XP_005248225.1:p.Leu44Arg
XM_006713965.2:c.188T>G	XP_006714028.1:p.Leu63Arg
XM_011513846.1:c.365T>G	XP_011512148.1:p.Leu122Arg
XM_011513847.1:c.335T>G	XP_011512149.1:p.Leu112Arg
XM_011513848.1:c.188T>G	XP_011512150.1:p.Leu63Arg
XM_011513846.2:c.365T>G	XP_011512148.1:p.Leu122Arg
XM_011513847.2:c.335T>G	XP_011512149.1:p.Leu112Arg
XM_017008277.1:c.623T>G	XP_016863766.1:p.Leu208Arg
XM_017008278.1:c.-56T>G	XP_016863767.1:n.-56T>G
NM_016955.4:c.368T>G MANE Select	NP_058651.3:p.Leu123Arg