Canonical Allele Identifier: CA356536870

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146455G>A (hg19) ; chr4:g.25144833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144833G>A , CM000666.2:g.25144833G>A	GRCh38
NC_000004.11:g.25146455G>A , CM000666.1:g.25146455G>A	GRCh37
NC_000004.10:g.24755553G>A	NCBI36
NG_028222.1:g.20750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.967C>T MANE Select	ENSP00000371535.2:p.Leu323Phe
ENST00000680581.1:c.967C>T	ENSP00000506483.1:p.Leu323Phe
ENST00000680824.1:n.2183C>T
ENST00000681071.1:n.1259C>T
ENST00000681341.1:n.2108C>T
ENST00000681948.1:c.1222C>T	ENSP00000505991.1:p.Leu408Phe
ENST00000358971.7:c.*765C>T	ENSP00000351857.3:n.*765C>T
ENST00000382103.6:c.967C>T	ENSP00000371535.2:p.Leu323Phe
ENST00000503150.1:c.249C>T
ENST00000505513.1:n.267C>T
ENST00000514585.5:c.*668C>T	ENSP00000421880.1:n.*668C>T
NM_016955.3:c.967C>T	NP_058651.3:p.Leu323Phe
XM_005248168.2:c.730C>T	XP_005248225.1:p.Leu244Phe
XM_006713965.2:c.787C>T	XP_006714028.1:p.Leu263Phe
XM_011513846.1:c.964C>T	XP_011512148.1:p.Leu322Phe
XM_011513847.1:c.934C>T	XP_011512149.1:p.Leu312Phe
XM_011513848.1:c.787C>T	XP_011512150.1:p.Leu263Phe
XM_011513846.2:c.964C>T	XP_011512148.1:p.Leu322Phe
XM_011513847.2:c.934C>T	XP_011512149.1:p.Leu312Phe
XM_017008277.1:c.1222C>T	XP_016863766.1:p.Leu408Phe
XM_017008278.1:c.544C>T	XP_016863767.1:p.Leu182Phe
NM_016955.4:c.967C>T MANE Select	NP_058651.3:p.Leu323Phe