Canonical Allele Identifier: CA356536665

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146406T>A (hg19) ; chr4:g.25144784T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144784T>A , CM000666.2:g.25144784T>A	GRCh38
NC_000004.11:g.25146406T>A , CM000666.1:g.25146406T>A	GRCh37
NC_000004.10:g.24755504T>A	NCBI36
NG_028222.1:g.20799A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.1016A>T MANE Select	ENSP00000371535.2:p.Lys339Ile
ENST00000680581.1:c.1016A>T	ENSP00000506483.1:p.Lys339Ile
ENST00000680824.1:n.2232A>T
ENST00000681071.1:n.1308A>T
ENST00000681341.1:n.2157A>T
ENST00000681948.1:c.1271A>T	ENSP00000505991.1:p.Lys424Ile
ENST00000358971.7:c.*814A>T	ENSP00000351857.3:n.*814A>T
ENST00000382103.6:c.1016A>T	ENSP00000371535.2:p.Lys339Ile
ENST00000503150.1:c.298A>T
ENST00000505513.1:n.316A>T
ENST00000514585.5:c.*717A>T	ENSP00000421880.1:n.*717A>T
NM_016955.3:c.1016A>T	NP_058651.3:p.Lys339Ile
XM_005248168.2:c.779A>T	XP_005248225.1:p.Lys260Ile
XM_006713965.2:c.836A>T	XP_006714028.1:p.Lys279Ile
XM_011513846.1:c.1013A>T	XP_011512148.1:p.Lys338Ile
XM_011513847.1:c.983A>T	XP_011512149.1:p.Lys328Ile
XM_011513848.1:c.836A>T	XP_011512150.1:p.Lys279Ile
XM_011513846.2:c.1013A>T	XP_011512148.1:p.Lys338Ile
XM_011513847.2:c.983A>T	XP_011512149.1:p.Lys328Ile
XM_017008277.1:c.1271A>T	XP_016863766.1:p.Lys424Ile
XM_017008278.1:c.593A>T	XP_016863767.1:p.Lys198Ile
NM_016955.4:c.1016A>T MANE Select	NP_058651.3:p.Lys339Ile