Canonical Allele Identifier: CA353673460

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93624670T>G (hg19) ; chr3:g.93905826T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93905826T>G , CM000665.2:g.93905826T>G	GRCh38
NC_000003.11:g.93624670T>G , CM000665.1:g.93624670T>G	GRCh37
NC_000003.10:g.95107360T>G	NCBI36
NG_009813.1:g.73265A>C , LRG_572:g.73265A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.559A>C	ENSP00000330021.7:p.Lys187Gln
ENST00000394236.9:c.559A>C MANE Select	ENSP00000377783.3:p.Lys187Gln
ENST00000407433.6:c.556+3A>C	ENSP00000385794.2:n.556+3A>C
ENST00000472684.2:c.166A>C	ENSP00000419616.2:p.Lys56Gln
ENST00000647936.1:c.559A>C	ENSP00000496822.1:p.Lys187Gln
ENST00000648381.1:n.727A>C
ENST00000648853.1:c.517A>C	ENSP00000497262.1:p.Lys173Gln
ENST00000649103.1:c.658A>C	ENSP00000497962.1:n.658A>C
ENST00000650591.1:c.655A>C	ENSP00000497376.1:p.Lys219Gln
ENST00000348974.4:c.655A>C	ENSP00000330021.6:p.Lys219Gln
ENST00000394236.7:c.559A>C	ENSP00000377783.3:p.Lys187Gln
ENST00000407433.5:c.166A>C	ENSP00000385794.1:p.Lys56Gln
ENST00000472684.1:c.166A>C	ENSP00000419616.1:p.Lys56Gln
NM_000313.3:c.559A>C , LRG_572t1:c.559A>C	NP_000304.2:p.Lys187Gln
NM_001314077.1:c.655A>C , LRG_572t2:c.655A>C	NP_001301006.1:p.Lys219Gln
NM_000313.4:c.559A>C MANE Select	NP_000304.2:p.Lys187Gln
NM_001314077.2:c.655A>C	NP_001301006.1:p.Lys219Gln