Canonical Allele Identifier: CA353671887

Gene: PROS1

Linked Data

• gnomAD v4: 3-93879219-T-C
• COSMIC: COSM4963083
• MyVariant Identifiers: chr3:g.93598063T>C (hg19) ; chr3:g.93879219T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879219T>C , CM000665.2:g.93879219T>C	GRCh38
NC_000003.11:g.93598063T>C , CM000665.1:g.93598063T>C	GRCh37
NC_000003.10:g.95080753T>C	NCBI36
NG_009813.1:g.99872A>G , LRG_572:g.99872A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1588A>G	ENSP00000330021.7:p.Asn530Asp
ENST00000394236.9:c.1588A>G MANE Select	ENSP00000377783.3:p.Asn530Asp
ENST00000407433.6:c.1543A>G	ENSP00000385794.2:p.Asn515Asp
ENST00000647936.1:c.1588A>G	ENSP00000496822.1:p.Asn530Asp
ENST00000648381.1:n.1756A>G
ENST00000648853.1:c.1546A>G	ENSP00000497262.1:p.Asn516Asp
ENST00000649103.1:c.1687A>G	ENSP00000497962.1:n.1687A>G
ENST00000649585.1:c.531A>G	ENSP00000498163.1:n.531A>G
ENST00000650591.1:c.1684A>G	ENSP00000497376.1:p.Asn562Asp
ENST00000394236.7:c.1588A>G	ENSP00000377783.3:p.Asn530Asp
ENST00000407433.5:c.1195A>G	ENSP00000385794.1:p.Asn399Asp
NM_000313.3:c.1588A>G , LRG_572t1:c.1588A>G	NP_000304.2:p.Asn530Asp
NM_001314077.1:c.1684A>G , LRG_572t2:c.1684A>G	NP_001301006.1:p.Asn562Asp
NM_000313.4:c.1588A>G MANE Select	NP_000304.2:p.Asn530Asp
NM_001314077.2:c.1684A>G	NP_001301006.1:p.Asn562Asp