Canonical Allele Identifier: CA353672994

Gene: PROS1

Linked Data

• COSMIC: COSM1729346
• MyVariant Identifiers: chr3:g.93617390T>A (hg19) ; chr3:g.93898546T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93898546T>A , CM000665.2:g.93898546T>A	GRCh38
NC_000003.11:g.93617390T>A , CM000665.1:g.93617390T>A	GRCh37
NC_000003.10:g.95100080T>A	NCBI36
NG_009813.1:g.80545A>T , LRG_572:g.80545A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.751A>T	ENSP00000330021.7:p.Met251Leu
ENST00000394236.9:c.751A>T MANE Select	ENSP00000377783.3:p.Met251Leu
ENST00000407433.6:c.706A>T	ENSP00000385794.2:p.Met236Leu
ENST00000647936.1:c.751A>T	ENSP00000496822.1:p.Met251Leu
ENST00000648381.1:n.919A>T
ENST00000648853.1:c.709A>T	ENSP00000497262.1:p.Met237Leu
ENST00000649103.1:c.850A>T	ENSP00000497962.1:n.850A>T
ENST00000650591.1:c.847A>T	ENSP00000497376.1:p.Met283Leu
ENST00000394236.7:c.751A>T	ENSP00000377783.3:p.Met251Leu
ENST00000407433.5:c.358A>T	ENSP00000385794.1:p.Met120Leu
NM_000313.3:c.751A>T , LRG_572t1:c.751A>T	NP_000304.2:p.Met251Leu
NM_001314077.1:c.847A>T , LRG_572t2:c.847A>T	NP_001301006.1:p.Met283Leu
NM_000313.4:c.751A>T MANE Select	NP_000304.2:p.Met251Leu
NM_001314077.2:c.847A>T	NP_001301006.1:p.Met283Leu