Canonical Allele Identifier: CA353674626

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93646192G>A (hg19) ; chr3:g.93927348G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927348G>A , CM000665.2:g.93927348G>A	GRCh38
NC_000003.11:g.93646192G>A , CM000665.1:g.93646192G>A	GRCh37
NC_000003.10:g.95128882G>A	NCBI36
NG_009813.1:g.51743C>T , LRG_572:g.51743C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.136C>T	ENSP00000330021.7:p.Leu46Phe
ENST00000394236.9:c.136C>T MANE Select	ENSP00000377783.3:p.Leu46Phe
ENST00000407433.6:c.136C>T	ENSP00000385794.2:p.Leu46Phe
ENST00000472684.2:c.-258C>T	ENSP00000419616.2:n.-258C>T
ENST00000647936.1:c.136C>T	ENSP00000496822.1:p.Leu46Phe
ENST00000648381.1:n.304C>T
ENST00000648853.1:c.94C>T	ENSP00000497262.1:p.Leu32Phe
ENST00000649103.1:c.115C>T	ENSP00000497962.1:p.Leu39Phe
ENST00000650591.1:c.232C>T	ENSP00000497376.1:p.Leu78Phe
ENST00000348974.4:c.232C>T	ENSP00000330021.6:p.Leu78Phe
ENST00000394236.7:c.136C>T	ENSP00000377783.3:p.Leu46Phe
ENST00000407433.5:c.-258C>T	ENSP00000385794.1:n.-258C>T
ENST00000472684.1:c.-258C>T	ENSP00000419616.1:n.-258C>T
NM_000313.3:c.136C>T , LRG_572t1:c.136C>T	NP_000304.2:p.Leu46Phe
NM_001314077.1:c.232C>T , LRG_572t2:c.232C>T	NP_001301006.1:p.Leu78Phe
NM_000313.4:c.136C>T MANE Select	NP_000304.2:p.Leu46Phe
NM_001314077.2:c.232C>T	NP_001301006.1:p.Leu78Phe