Canonical Allele Identifier: CA383221285

Gene: DCPS GSEC

Linked Data

• MyVariant Identifiers: chr11:g.126215432A>T (hg19) ; chr11:g.126345537A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126345537A>T , CM000673.2:g.126345537A>T	GRCh38
NC_000011.9:g.126215432A>T , CM000673.1:g.126215432A>T	GRCh37
NC_000011.8:g.125720642A>T	NCBI36
NG_053153.1:g.47237A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263579.5:c.938A>T (DCPS) MANE Select	ENSP00000263579.4:p.Gln313Leu
ENST00000648516.1:c.659A>T (DCPS)	ENSP00000497684.1:p.Gln220Leu
ENST00000263579.4:c.938A>T (DCPS)	ENSP00000263579.4:p.Gln313Leu
ENST00000529149.1:n.2288A>T (DCPS)
ENST00000530860.5:n.449A>T (DCPS)
NM_014026.4:c.938A>T (DCPS)	NP_054745.1:p.Gln313Leu
NR_033839.1:n.147-3215T>A (GSEC)
XM_011542778.1:c.959A>T (DCPS)	XP_011541080.1:p.Gln320Leu
XM_011542779.1:c.659A>T (DCPS)	XP_011541081.1:p.Gln220Leu
XM_011542780.1:c.659A>T (DCPS)	XP_011541082.1:p.Gln220Leu
NM_001350236.1:c.959A>T (DCPS)	NP_001337165.1:p.Gln320Leu
NM_014026.5:c.938A>T (DCPS)	NP_054745.1:p.Gln313Leu
NM_014026.6:c.938A>T (DCPS) MANE Select	NP_054745.1:p.Gln313Leu
NM_001350236.2:c.959A>T (DCPS)	NP_001337165.1:p.Gln320Leu