Canonical Allele Identifier: CA356536687

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146412A>C (hg19) ; chr4:g.25144790A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144790A>C , CM000666.2:g.25144790A>C	GRCh38
NC_000004.11:g.25146412A>C , CM000666.1:g.25146412A>C	GRCh37
NC_000004.10:g.24755510A>C	NCBI36
NG_028222.1:g.20793T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.1010T>G MANE Select	ENSP00000371535.2:p.Leu337Arg
ENST00000680581.1:c.1010T>G	ENSP00000506483.1:p.Leu337Arg
ENST00000680824.1:n.2226T>G
ENST00000681071.1:n.1302T>G
ENST00000681341.1:n.2151T>G
ENST00000681948.1:c.1265T>G	ENSP00000505991.1:p.Leu422Arg
ENST00000358971.7:c.*808T>G	ENSP00000351857.3:n.*808T>G
ENST00000382103.6:c.1010T>G	ENSP00000371535.2:p.Leu337Arg
ENST00000503150.1:c.292T>G
ENST00000505513.1:n.310T>G
ENST00000514585.5:c.*711T>G	ENSP00000421880.1:n.*711T>G
NM_016955.3:c.1010T>G	NP_058651.3:p.Leu337Arg
XM_005248168.2:c.773T>G	XP_005248225.1:p.Leu258Arg
XM_006713965.2:c.830T>G	XP_006714028.1:p.Leu277Arg
XM_011513846.1:c.1007T>G	XP_011512148.1:p.Leu336Arg
XM_011513847.1:c.977T>G	XP_011512149.1:p.Leu326Arg
XM_011513848.1:c.830T>G	XP_011512150.1:p.Leu277Arg
XM_011513846.2:c.1007T>G	XP_011512148.1:p.Leu336Arg
XM_011513847.2:c.977T>G	XP_011512149.1:p.Leu326Arg
XM_017008277.1:c.1265T>G	XP_016863766.1:p.Leu422Arg
XM_017008278.1:c.587T>G	XP_016863767.1:p.Leu196Arg
NM_016955.4:c.1010T>G MANE Select	NP_058651.3:p.Leu337Arg