Canonical Allele Identifier: CA438732305

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 2089570
• ClinVar RCV Id: RCV003005615
• gnomAD v4: 4-25144819-C-T
• MyVariant Identifiers: chr4:g.25146441C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.981G>A MANE Select	ENSP00000371535.2:p.Leu327=
ENST00000680581.1:c.981G>A	ENSP00000506483.1:p.Leu327=
ENST00000680824.1:n.2197G>A
ENST00000681071.1:n.1273G>A
ENST00000681341.1:n.2122G>A
ENST00000681948.1:c.1236G>A	ENSP00000505991.1:p.Leu412=
ENST00000358971.7:c.*779G>A	ENSP00000351857.3:n.*779G>A
ENST00000382103.6:c.981G>A	ENSP00000371535.2:p.Leu327=
ENST00000503150.1:c.263G>A
ENST00000505513.1:n.281G>A
ENST00000514585.5:c.*682G>A	ENSP00000421880.1:n.*682G>A
NM_016955.3:c.981G>A	NP_058651.3:p.Leu327=
XM_005248168.2:c.744G>A	XP_005248225.1:p.Leu248=
XM_006713965.2:c.801G>A	XP_006714028.1:p.Leu267=
XM_011513846.1:c.978G>A	XP_011512148.1:p.Leu326=
XM_011513847.1:c.948G>A	XP_011512149.1:p.Leu316=
XM_011513848.1:c.801G>A	XP_011512150.1:p.Leu267=
XM_011513846.2:c.978G>A	XP_011512148.1:p.Leu326=
XM_011513847.2:c.948G>A	XP_011512149.1:p.Leu316=
XM_017008277.1:c.1236G>A	XP_016863766.1:p.Leu412=
XM_017008278.1:c.558G>A	XP_016863767.1:p.Leu186=
NM_016955.4:c.981G>A MANE Select	NP_058651.3:p.Leu327=