Canonical Allele Identifier: CA356536815

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146441C>G (hg19) ; chr4:g.25144819C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144819C>G , CM000666.2:g.25144819C>G	GRCh38
NC_000004.11:g.25146441C>G , CM000666.1:g.25146441C>G	GRCh37
NC_000004.10:g.24755539C>G	NCBI36
NG_028222.1:g.20764G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.981G>C MANE Select	ENSP00000371535.2:p.Leu327Phe
ENST00000680581.1:c.981G>C	ENSP00000506483.1:p.Leu327Phe
ENST00000680824.1:n.2197G>C
ENST00000681071.1:n.1273G>C
ENST00000681341.1:n.2122G>C
ENST00000681948.1:c.1236G>C	ENSP00000505991.1:p.Leu412Phe
ENST00000358971.7:c.*779G>C	ENSP00000351857.3:n.*779G>C
ENST00000382103.6:c.981G>C	ENSP00000371535.2:p.Leu327Phe
ENST00000503150.1:c.263G>C
ENST00000505513.1:n.281G>C
ENST00000514585.5:c.*682G>C	ENSP00000421880.1:n.*682G>C
NM_016955.3:c.981G>C	NP_058651.3:p.Leu327Phe
XM_005248168.2:c.744G>C	XP_005248225.1:p.Leu248Phe
XM_006713965.2:c.801G>C	XP_006714028.1:p.Leu267Phe
XM_011513846.1:c.978G>C	XP_011512148.1:p.Leu326Phe
XM_011513847.1:c.948G>C	XP_011512149.1:p.Leu316Phe
XM_011513848.1:c.801G>C	XP_011512150.1:p.Leu267Phe
XM_011513846.2:c.978G>C	XP_011512148.1:p.Leu326Phe
XM_011513847.2:c.948G>C	XP_011512149.1:p.Leu316Phe
XM_017008277.1:c.1236G>C	XP_016863766.1:p.Leu412Phe
XM_017008278.1:c.558G>C	XP_016863767.1:p.Leu186Phe
NM_016955.4:c.981G>C MANE Select	NP_058651.3:p.Leu327Phe