Canonical Allele Identifier: CA356542541

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25158481C>G (hg19) ; chr4:g.25156859C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156859C>G , CM000666.2:g.25156859C>G	GRCh38
NC_000004.11:g.25158481C>G , CM000666.1:g.25158481C>G	GRCh37
NC_000004.10:g.24767579C>G	NCBI36
NG_028222.1:g.8724G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.385G>C MANE Select	ENSP00000371535.2:p.Ala129Pro
ENST00000680581.1:c.385G>C	ENSP00000506483.1:p.Ala129Pro
ENST00000680824.1:n.1601G>C
ENST00000681071.1:n.677G>C
ENST00000681166.1:n.1432G>C
ENST00000681341.1:n.1526G>C
ENST00000681640.1:n.479G>C
ENST00000681948.1:c.640G>C	ENSP00000505991.1:p.Ala214Pro
ENST00000358971.7:c.*183G>C	ENSP00000351857.3:n.*183G>C
ENST00000382103.6:c.385G>C	ENSP00000371535.2:p.Ala129Pro
ENST00000514585.5:c.*86G>C	ENSP00000421880.1:n.*86G>C
NM_016955.3:c.385G>C	NP_058651.3:p.Ala129Pro
XM_005248168.2:c.148G>C	XP_005248225.1:p.Ala50Pro
XM_006713965.2:c.205G>C	XP_006714028.1:p.Ala69Pro
XM_011513846.1:c.382G>C	XP_011512148.1:p.Ala128Pro
XM_011513847.1:c.352G>C	XP_011512149.1:p.Ala118Pro
XM_011513848.1:c.205G>C	XP_011512150.1:p.Ala69Pro
XM_011513846.2:c.382G>C	XP_011512148.1:p.Ala128Pro
XM_011513847.2:c.352G>C	XP_011512149.1:p.Ala118Pro
XM_017008277.1:c.640G>C	XP_016863766.1:p.Ala214Pro
XM_017008278.1:c.-39G>C	XP_016863767.1:n.-39G>C
NM_016955.4:c.385G>C MANE Select	NP_058651.3:p.Ala129Pro