Canonical Allele Identifier: CA353674441

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93646112A>C (hg19) ; chr3:g.93927268A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927268A>C , CM000665.2:g.93927268A>C	GRCh38
NC_000003.11:g.93646112A>C , CM000665.1:g.93646112A>C	GRCh37
NC_000003.10:g.95128802A>C	NCBI36
NG_009813.1:g.51823T>G , LRG_572:g.51823T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.216T>G	ENSP00000330021.7:p.Phe72Leu
ENST00000394236.9:c.216T>G MANE Select	ENSP00000377783.3:p.Phe72Leu
ENST00000407433.6:c.216T>G	ENSP00000385794.2:p.Phe72Leu
ENST00000472684.2:c.-178T>G	ENSP00000419616.2:n.-178T>G
ENST00000647936.1:c.216T>G	ENSP00000496822.1:p.Phe72Leu
ENST00000648381.1:n.384T>G
ENST00000648853.1:c.174T>G	ENSP00000497262.1:p.Phe58Leu
ENST00000649103.1:c.195T>G	ENSP00000497962.1:p.Phe65Leu
ENST00000650591.1:c.312T>G	ENSP00000497376.1:p.Phe104Leu
ENST00000348974.4:c.312T>G	ENSP00000330021.6:p.Phe104Leu
ENST00000394236.7:c.216T>G	ENSP00000377783.3:p.Phe72Leu
ENST00000407433.5:c.-178T>G	ENSP00000385794.1:n.-178T>G
ENST00000472684.1:c.-178T>G	ENSP00000419616.1:n.-178T>G
NM_000313.3:c.216T>G , LRG_572t1:c.216T>G	NP_000304.2:p.Phe72Leu
NM_001314077.1:c.312T>G , LRG_572t2:c.312T>G	NP_001301006.1:p.Phe104Leu
NM_000313.4:c.216T>G MANE Select	NP_000304.2:p.Phe72Leu
NM_001314077.2:c.312T>G	NP_001301006.1:p.Phe104Leu