Canonical Allele Identifier: CA353672079

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93598111T>A (hg19) ; chr3:g.93879267T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879267T>A , CM000665.2:g.93879267T>A	GRCh38
NC_000003.11:g.93598111T>A , CM000665.1:g.93598111T>A	GRCh37
NC_000003.10:g.95080801T>A	NCBI36
NG_009813.1:g.99824A>T , LRG_572:g.99824A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1540A>T	ENSP00000330021.7:p.Ile514Phe
ENST00000394236.9:c.1540A>T MANE Select	ENSP00000377783.3:p.Ile514Phe
ENST00000407433.6:c.1495A>T	ENSP00000385794.2:p.Ile499Phe
ENST00000647936.1:c.1540A>T	ENSP00000496822.1:p.Ile514Phe
ENST00000648381.1:n.1708A>T
ENST00000648853.1:c.1498A>T	ENSP00000497262.1:p.Ile500Phe
ENST00000649103.1:c.1639A>T	ENSP00000497962.1:n.1639A>T
ENST00000649585.1:c.483A>T	ENSP00000498163.1:n.483A>T
ENST00000650591.1:c.1636A>T	ENSP00000497376.1:p.Ile546Phe
ENST00000394236.7:c.1540A>T	ENSP00000377783.3:p.Ile514Phe
ENST00000407433.5:c.1147A>T	ENSP00000385794.1:p.Ile383Phe
NM_000313.3:c.1540A>T , LRG_572t1:c.1540A>T	NP_000304.2:p.Ile514Phe
NM_001314077.1:c.1636A>T , LRG_572t2:c.1636A>T	NP_001301006.1:p.Ile546Phe
NM_000313.4:c.1540A>T MANE Select	NP_000304.2:p.Ile514Phe
NM_001314077.2:c.1636A>T	NP_001301006.1:p.Ile546Phe