Canonical Allele Identifier: CA356536836

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146446A>C (hg19) ; chr4:g.25144824A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144824A>C , CM000666.2:g.25144824A>C	GRCh38
NC_000004.11:g.25146446A>C , CM000666.1:g.25146446A>C	GRCh37
NC_000004.10:g.24755544A>C	NCBI36
NG_028222.1:g.20759T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.976T>G MANE Select	ENSP00000371535.2:p.Leu326Val
ENST00000680581.1:c.976T>G	ENSP00000506483.1:p.Leu326Val
ENST00000680824.1:n.2192T>G
ENST00000681071.1:n.1268T>G
ENST00000681341.1:n.2117T>G
ENST00000681948.1:c.1231T>G	ENSP00000505991.1:p.Leu411Val
ENST00000358971.7:c.*774T>G	ENSP00000351857.3:n.*774T>G
ENST00000382103.6:c.976T>G	ENSP00000371535.2:p.Leu326Val
ENST00000503150.1:c.258T>G
ENST00000505513.1:n.276T>G
ENST00000514585.5:c.*677T>G	ENSP00000421880.1:n.*677T>G
NM_016955.3:c.976T>G	NP_058651.3:p.Leu326Val
XM_005248168.2:c.739T>G	XP_005248225.1:p.Leu247Val
XM_006713965.2:c.796T>G	XP_006714028.1:p.Leu266Val
XM_011513846.1:c.973T>G	XP_011512148.1:p.Leu325Val
XM_011513847.1:c.943T>G	XP_011512149.1:p.Leu315Val
XM_011513848.1:c.796T>G	XP_011512150.1:p.Leu266Val
XM_011513846.2:c.973T>G	XP_011512148.1:p.Leu325Val
XM_011513847.2:c.943T>G	XP_011512149.1:p.Leu315Val
XM_017008277.1:c.1231T>G	XP_016863766.1:p.Leu411Val
XM_017008278.1:c.553T>G	XP_016863767.1:p.Leu185Val
NM_016955.4:c.976T>G MANE Select	NP_058651.3:p.Leu326Val