Canonical Allele Identifier: CA2877470

Gene: SEPSECS

Linked Data

• dbSNP Id: rs749054120
• ExAC: 4:25158493 T / G
• gnomAD v2: 4-25158493-T-G
• gnomAD v4: 4-25156871-T-G
• MyVariant Identifiers: chr4:g.25158493T>G (hg19) ; chr4:g.25156871T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156871T>G , CM000666.2:g.25156871T>G	GRCh38
NC_000004.11:g.25158493T>G , CM000666.1:g.25158493T>G	GRCh37
NC_000004.10:g.24767591T>G	NCBI36
NG_028222.1:g.8712A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.373A>C MANE Select	ENSP00000371535.2:p.Ile125Leu
ENST00000680581.1:c.373A>C	ENSP00000506483.1:p.Ile125Leu
ENST00000680824.1:n.1589A>C
ENST00000681071.1:n.665A>C
ENST00000681166.1:n.1420A>C
ENST00000681341.1:n.1514A>C
ENST00000681640.1:n.467A>C
ENST00000681948.1:c.628A>C	ENSP00000505991.1:p.Ile210Leu
ENST00000358971.7:c.*171A>C	ENSP00000351857.3:n.*171A>C
ENST00000382103.6:c.373A>C	ENSP00000371535.2:p.Ile125Leu
ENST00000514585.5:c.*74A>C	ENSP00000421880.1:n.*74A>C
NM_016955.3:c.373A>C	NP_058651.3:p.Ile125Leu
XM_005248168.2:c.136A>C	XP_005248225.1:p.Ile46Leu
XM_006713965.2:c.193A>C	XP_006714028.1:p.Ile65Leu
XM_011513846.1:c.370A>C	XP_011512148.1:p.Ile124Leu
XM_011513847.1:c.340A>C	XP_011512149.1:p.Ile114Leu
XM_011513848.1:c.193A>C	XP_011512150.1:p.Ile65Leu
XM_011513846.2:c.370A>C	XP_011512148.1:p.Ile124Leu
XM_011513847.2:c.340A>C	XP_011512149.1:p.Ile114Leu
XM_017008277.1:c.628A>C	XP_016863766.1:p.Ile210Leu
XM_017008278.1:c.-51A>C	XP_016863767.1:n.-51A>C
NM_016955.4:c.373A>C MANE Select	NP_058651.3:p.Ile125Leu