Canonical Allele Identifier: CA353672635

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93615481A>C (hg19) ; chr3:g.93896637A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896637A>C , CM000665.2:g.93896637A>C	GRCh38
NC_000003.11:g.93615481A>C , CM000665.1:g.93615481A>C	GRCh37
NC_000003.10:g.95098171A>C	NCBI36
NG_009813.1:g.82454T>G , LRG_572:g.82454T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.904T>G	ENSP00000330021.7:p.Leu302Val
ENST00000394236.9:c.904T>G MANE Select	ENSP00000377783.3:p.Leu302Val
ENST00000407433.6:c.859T>G	ENSP00000385794.2:p.Leu287Val
ENST00000647936.1:c.904T>G	ENSP00000496822.1:p.Leu302Val
ENST00000648381.1:n.1072T>G
ENST00000648853.1:c.862T>G	ENSP00000497262.1:p.Leu288Val
ENST00000649103.1:c.1003T>G	ENSP00000497962.1:n.1003T>G
ENST00000650591.1:c.1000T>G	ENSP00000497376.1:p.Leu334Val
ENST00000394236.7:c.904T>G	ENSP00000377783.3:p.Leu302Val
ENST00000407433.5:c.511T>G	ENSP00000385794.1:p.Leu171Val
NM_000313.3:c.904T>G , LRG_572t1:c.904T>G	NP_000304.2:p.Leu302Val
NM_001314077.1:c.1000T>G , LRG_572t2:c.1000T>G	NP_001301006.1:p.Leu334Val
NM_000313.4:c.904T>G MANE Select	NP_000304.2:p.Leu302Val
NM_001314077.2:c.1000T>G	NP_001301006.1:p.Leu334Val