Canonical Allele Identifier: CA356536924

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146469G>A (hg19) ; chr4:g.25144847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144847G>A , CM000666.2:g.25144847G>A	GRCh38
NC_000004.11:g.25146469G>A , CM000666.1:g.25146469G>A	GRCh37
NC_000004.10:g.24755567G>A	NCBI36
NG_028222.1:g.20736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.953C>T MANE Select	ENSP00000371535.2:p.Pro318Leu
ENST00000680581.1:c.953C>T	ENSP00000506483.1:p.Pro318Leu
ENST00000680824.1:n.2169C>T
ENST00000681071.1:n.1245C>T
ENST00000681341.1:n.2094C>T
ENST00000681948.1:c.1208C>T	ENSP00000505991.1:p.Pro403Leu
ENST00000358971.7:c.*751C>T	ENSP00000351857.3:n.*751C>T
ENST00000382103.6:c.953C>T	ENSP00000371535.2:p.Pro318Leu
ENST00000503150.1:c.235C>T
ENST00000505513.1:n.253C>T
ENST00000514585.5:c.*654C>T	ENSP00000421880.1:n.*654C>T
NM_016955.3:c.953C>T	NP_058651.3:p.Pro318Leu
XM_005248168.2:c.716C>T	XP_005248225.1:p.Pro239Leu
XM_006713965.2:c.773C>T	XP_006714028.1:p.Pro258Leu
XM_011513846.1:c.950C>T	XP_011512148.1:p.Pro317Leu
XM_011513847.1:c.920C>T	XP_011512149.1:p.Pro307Leu
XM_011513848.1:c.773C>T	XP_011512150.1:p.Pro258Leu
XM_011513846.2:c.950C>T	XP_011512148.1:p.Pro317Leu
XM_011513847.2:c.920C>T	XP_011512149.1:p.Pro307Leu
XM_017008277.1:c.1208C>T	XP_016863766.1:p.Pro403Leu
XM_017008278.1:c.530C>T	XP_016863767.1:p.Pro177Leu
NM_016955.4:c.953C>T MANE Select	NP_058651.3:p.Pro318Leu