Canonical Allele Identifier: CA353672631

Gene: PROS1

Linked Data

• gnomAD v4: 3-93896635-C-A
• MyVariant Identifiers: chr3:g.93615479C>A (hg19) ; chr3:g.93896635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896635C>A , CM000665.2:g.93896635C>A	GRCh38
NC_000003.11:g.93615479C>A , CM000665.1:g.93615479C>A	GRCh37
NC_000003.10:g.95098169C>A	NCBI36
NG_009813.1:g.82456G>T , LRG_572:g.82456G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.906G>T	ENSP00000330021.7:p.Leu302Phe
ENST00000394236.9:c.906G>T MANE Select	ENSP00000377783.3:p.Leu302Phe
ENST00000407433.6:c.861G>T	ENSP00000385794.2:p.Leu287Phe
ENST00000647936.1:c.906G>T	ENSP00000496822.1:p.Leu302Phe
ENST00000648381.1:n.1074G>T
ENST00000648853.1:c.864G>T	ENSP00000497262.1:p.Leu288Phe
ENST00000649103.1:c.1005G>T	ENSP00000497962.1:n.1005G>T
ENST00000650591.1:c.1002G>T	ENSP00000497376.1:p.Leu334Phe
ENST00000394236.7:c.906G>T	ENSP00000377783.3:p.Leu302Phe
ENST00000407433.5:c.513G>T	ENSP00000385794.1:p.Leu171Phe
NM_000313.3:c.906G>T , LRG_572t1:c.906G>T	NP_000304.2:p.Leu302Phe
NM_001314077.1:c.1002G>T , LRG_572t2:c.1002G>T	NP_001301006.1:p.Leu334Phe
NM_000313.4:c.906G>T MANE Select	NP_000304.2:p.Leu302Phe
NM_001314077.2:c.1002G>T	NP_001301006.1:p.Leu334Phe