Canonical Allele Identifier: CA356536800

Gene: SEPSECS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.985C>T MANE Select	ENSP00000371535.2:p.Leu329Phe
ENST00000680581.1:c.985C>T	ENSP00000506483.1:p.Leu329Phe
ENST00000680824.1:n.2201C>T
ENST00000681071.1:n.1277C>T
ENST00000681341.1:n.2126C>T
ENST00000681948.1:c.1240C>T	ENSP00000505991.1:p.Leu414Phe
ENST00000358971.7:c.*783C>T	ENSP00000351857.3:n.*783C>T
ENST00000382103.6:c.985C>T	ENSP00000371535.2:p.Leu329Phe
ENST00000503150.1:c.267C>T
ENST00000505513.1:n.285C>T
ENST00000514585.5:c.*686C>T	ENSP00000421880.1:n.*686C>T
NM_016955.3:c.985C>T	NP_058651.3:p.Leu329Phe
XM_005248168.2:c.748C>T	XP_005248225.1:p.Leu250Phe
XM_006713965.2:c.805C>T	XP_006714028.1:p.Leu269Phe
XM_011513846.1:c.982C>T	XP_011512148.1:p.Leu328Phe
XM_011513847.1:c.952C>T	XP_011512149.1:p.Leu318Phe
XM_011513848.1:c.805C>T	XP_011512150.1:p.Leu269Phe
XM_011513846.2:c.982C>T	XP_011512148.1:p.Leu328Phe
XM_011513847.2:c.952C>T	XP_011512149.1:p.Leu318Phe
XM_017008277.1:c.1240C>T	XP_016863766.1:p.Leu414Phe
XM_017008278.1:c.562C>T	XP_016863767.1:p.Leu188Phe
NM_016955.4:c.985C>T MANE Select	NP_058651.3:p.Leu329Phe