Canonical Allele Identifier: CA353671052

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93595902T>G (hg19) ; chr3:g.93877058T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877058T>G , CM000665.2:g.93877058T>G	GRCh38
NC_000003.11:g.93595902T>G , CM000665.1:g.93595902T>G	GRCh37
NC_000003.10:g.95078592T>G	NCBI36
NG_009813.1:g.102033A>C , LRG_572:g.102033A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1778A>C	ENSP00000330021.7:p.Glu593Ala
ENST00000394236.9:c.1778A>C MANE Select	ENSP00000377783.3:p.Glu593Ala
ENST00000407433.6:c.1733A>C	ENSP00000385794.2:p.Glu578Ala
ENST00000647936.1:c.1644+2105A>C	ENSP00000496822.1:n.1644+2105A>C
ENST00000648381.1:n.1946A>C
ENST00000648853.1:c.1736A>C	ENSP00000497262.1:p.Glu579Ala
ENST00000649103.1:c.1877A>C	ENSP00000497962.1:n.1877A>C
ENST00000649585.1:c.721A>C	ENSP00000498163.1:n.721A>C
ENST00000650591.1:c.1874A>C	ENSP00000497376.1:p.Glu625Ala
ENST00000394236.7:c.1778A>C	ENSP00000377783.3:p.Glu593Ala
ENST00000407433.5:c.1385A>C	ENSP00000385794.1:p.Glu462Ala
NM_000313.3:c.1778A>C , LRG_572t1:c.1778A>C	NP_000304.2:p.Glu593Ala
NM_001314077.1:c.1874A>C , LRG_572t2:c.1874A>C	NP_001301006.1:p.Glu625Ala
NM_000313.4:c.1778A>C MANE Select	NP_000304.2:p.Glu593Ala
NM_001314077.2:c.1874A>C	NP_001301006.1:p.Glu625Ala