Canonical Allele Identifier: CA353672105

Gene: PROS1

Linked Data

• gnomAD v4: 3-93879275-G-A
• MyVariant Identifiers: chr3:g.93598119G>A (hg19) ; chr3:g.93879275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879275G>A , CM000665.2:g.93879275G>A	GRCh38
NC_000003.11:g.93598119G>A , CM000665.1:g.93598119G>A	GRCh37
NC_000003.10:g.95080809G>A	NCBI36
NG_009813.1:g.99816C>T , LRG_572:g.99816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1532C>T	ENSP00000330021.7:p.Thr511Ile
ENST00000394236.9:c.1532C>T MANE Select	ENSP00000377783.3:p.Thr511Ile
ENST00000407433.6:c.1487C>T	ENSP00000385794.2:p.Thr496Ile
ENST00000647936.1:c.1532C>T	ENSP00000496822.1:p.Thr511Ile
ENST00000648381.1:n.1700C>T
ENST00000648853.1:c.1490C>T	ENSP00000497262.1:p.Thr497Ile
ENST00000649103.1:c.1631C>T	ENSP00000497962.1:n.1631C>T
ENST00000649585.1:c.475C>T	ENSP00000498163.1:n.475C>T
ENST00000650591.1:c.1628C>T	ENSP00000497376.1:p.Thr543Ile
ENST00000394236.7:c.1532C>T	ENSP00000377783.3:p.Thr511Ile
ENST00000407433.5:c.1139C>T	ENSP00000385794.1:p.Thr380Ile
NM_000313.3:c.1532C>T , LRG_572t1:c.1532C>T	NP_000304.2:p.Thr511Ile
NM_001314077.1:c.1628C>T , LRG_572t2:c.1628C>T	NP_001301006.1:p.Thr543Ile
NM_000313.4:c.1532C>T MANE Select	NP_000304.2:p.Thr511Ile
NM_001314077.2:c.1628C>T	NP_001301006.1:p.Thr543Ile