Canonical Allele Identifier: CA356536797

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146437G>T (hg19) ; chr4:g.25144815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144815G>T , CM000666.2:g.25144815G>T	GRCh38
NC_000004.11:g.25146437G>T , CM000666.1:g.25146437G>T	GRCh37
NC_000004.10:g.24755535G>T	NCBI36
NG_028222.1:g.20768C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.985C>A MANE Select	ENSP00000371535.2:p.Leu329Ile
ENST00000680581.1:c.985C>A	ENSP00000506483.1:p.Leu329Ile
ENST00000680824.1:n.2201C>A
ENST00000681071.1:n.1277C>A
ENST00000681341.1:n.2126C>A
ENST00000681948.1:c.1240C>A	ENSP00000505991.1:p.Leu414Ile
ENST00000358971.7:c.*783C>A	ENSP00000351857.3:n.*783C>A
ENST00000382103.6:c.985C>A	ENSP00000371535.2:p.Leu329Ile
ENST00000503150.1:c.267C>A
ENST00000505513.1:n.285C>A
ENST00000514585.5:c.*686C>A	ENSP00000421880.1:n.*686C>A
NM_016955.3:c.985C>A	NP_058651.3:p.Leu329Ile
XM_005248168.2:c.748C>A	XP_005248225.1:p.Leu250Ile
XM_006713965.2:c.805C>A	XP_006714028.1:p.Leu269Ile
XM_011513846.1:c.982C>A	XP_011512148.1:p.Leu328Ile
XM_011513847.1:c.952C>A	XP_011512149.1:p.Leu318Ile
XM_011513848.1:c.805C>A	XP_011512150.1:p.Leu269Ile
XM_011513846.2:c.982C>A	XP_011512148.1:p.Leu328Ile
XM_011513847.2:c.952C>A	XP_011512149.1:p.Leu318Ile
XM_017008277.1:c.1240C>A	XP_016863766.1:p.Leu414Ile
XM_017008278.1:c.562C>A	XP_016863767.1:p.Leu188Ile
NM_016955.4:c.985C>A MANE Select	NP_058651.3:p.Leu329Ile