Canonical Allele Identifier: CA353670919

Gene: PROS1

Linked Data

• gnomAD v4: 3-93877016-A-T
• MyVariant Identifiers: chr3:g.93595860A>T (hg19) ; chr3:g.93877016A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877016A>T , CM000665.2:g.93877016A>T	GRCh38
NC_000003.11:g.93595860A>T , CM000665.1:g.93595860A>T	GRCh37
NC_000003.10:g.95078550A>T	NCBI36
NG_009813.1:g.102075T>A , LRG_572:g.102075T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1820T>A	ENSP00000330021.7:p.Leu607Ter
ENST00000394236.9:c.1820T>A MANE Select	ENSP00000377783.3:p.Leu607Ter
ENST00000407433.6:c.1775T>A	ENSP00000385794.2:p.Leu592Ter
ENST00000647936.1:c.1644+2147T>A	ENSP00000496822.1:n.1644+2147T>A
ENST00000648381.1:n.1988T>A
ENST00000648853.1:c.1778T>A	ENSP00000497262.1:p.Leu593Ter
ENST00000649585.1:c.763T>A	ENSP00000498163.1:n.763T>A
ENST00000650591.1:c.1916T>A	ENSP00000497376.1:p.Leu639Ter
ENST00000394236.7:c.1820T>A	ENSP00000377783.3:p.Leu607Ter
ENST00000407433.5:c.1427T>A	ENSP00000385794.1:p.Leu476Ter
NM_000313.3:c.1820T>A , LRG_572t1:c.1820T>A	NP_000304.2:p.Leu607Ter
NM_001314077.1:c.1916T>A , LRG_572t2:c.1916T>A	NP_001301006.1:p.Leu639Ter
NM_000313.4:c.1820T>A MANE Select	NP_000304.2:p.Leu607Ter
NM_001314077.2:c.1916T>A	NP_001301006.1:p.Leu639Ter