Canonical Allele Identifier: CA356536792

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146436A>G (hg19) ; chr4:g.25144814A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144814A>G , CM000666.2:g.25144814A>G	GRCh38
NC_000004.11:g.25146436A>G , CM000666.1:g.25146436A>G	GRCh37
NC_000004.10:g.24755534A>G	NCBI36
NG_028222.1:g.20769T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.986T>C MANE Select	ENSP00000371535.2:p.Leu329Pro
ENST00000680581.1:c.986T>C	ENSP00000506483.1:p.Leu329Pro
ENST00000680824.1:n.2202T>C
ENST00000681071.1:n.1278T>C
ENST00000681341.1:n.2127T>C
ENST00000681948.1:c.1241T>C	ENSP00000505991.1:p.Leu414Pro
ENST00000358971.7:c.*784T>C	ENSP00000351857.3:n.*784T>C
ENST00000382103.6:c.986T>C	ENSP00000371535.2:p.Leu329Pro
ENST00000503150.1:c.268T>C
ENST00000505513.1:n.286T>C
ENST00000514585.5:c.*687T>C	ENSP00000421880.1:n.*687T>C
NM_016955.3:c.986T>C	NP_058651.3:p.Leu329Pro
XM_005248168.2:c.749T>C	XP_005248225.1:p.Leu250Pro
XM_006713965.2:c.806T>C	XP_006714028.1:p.Leu269Pro
XM_011513846.1:c.983T>C	XP_011512148.1:p.Leu328Pro
XM_011513847.1:c.953T>C	XP_011512149.1:p.Leu318Pro
XM_011513848.1:c.806T>C	XP_011512150.1:p.Leu269Pro
XM_011513846.2:c.983T>C	XP_011512148.1:p.Leu328Pro
XM_011513847.2:c.953T>C	XP_011512149.1:p.Leu318Pro
XM_017008277.1:c.1241T>C	XP_016863766.1:p.Leu414Pro
XM_017008278.1:c.563T>C	XP_016863767.1:p.Leu188Pro
NM_016955.4:c.986T>C MANE Select	NP_058651.3:p.Leu329Pro