Canonical Allele Identifier: CA353673070

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93619650T>G (hg19) ; chr3:g.93900806T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900806T>G , CM000665.2:g.93900806T>G	GRCh38
NC_000003.11:g.93619650T>G , CM000665.1:g.93619650T>G	GRCh37
NC_000003.10:g.95102340T>G	NCBI36
NG_009813.1:g.78285A>C , LRG_572:g.78285A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.725A>C	ENSP00000330021.7:p.Glu242Ala
ENST00000394236.9:c.725A>C MANE Select	ENSP00000377783.3:p.Glu242Ala
ENST00000407433.6:c.680A>C	ENSP00000385794.2:p.Glu227Ala
ENST00000647936.1:c.725A>C	ENSP00000496822.1:p.Glu242Ala
ENST00000648381.1:n.893A>C
ENST00000648853.1:c.683A>C	ENSP00000497262.1:p.Glu228Ala
ENST00000649103.1:c.824A>C	ENSP00000497962.1:n.824A>C
ENST00000650591.1:c.821A>C	ENSP00000497376.1:p.Glu274Ala
ENST00000394236.7:c.725A>C	ENSP00000377783.3:p.Glu242Ala
ENST00000407433.5:c.332A>C	ENSP00000385794.1:p.Glu111Ala
NM_000313.3:c.725A>C , LRG_572t1:c.725A>C	NP_000304.2:p.Glu242Ala
NM_001314077.1:c.821A>C , LRG_572t2:c.821A>C	NP_001301006.1:p.Glu274Ala
NM_000313.4:c.725A>C MANE Select	NP_000304.2:p.Glu242Ala
NM_001314077.2:c.821A>C	NP_001301006.1:p.Glu274Ala