Canonical Allele Identifier: CA434460820

Gene: PROS1

Linked Data

• gnomAD v4: 3-93896590-C-T
• MyVariant Identifiers: chr3:g.93615434C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896590C>T , CM000665.2:g.93896590C>T	GRCh38
NC_000003.11:g.93615434C>T , CM000665.1:g.93615434C>T	GRCh37
NC_000003.10:g.95098124C>T	NCBI36
NG_009813.1:g.82501G>A , LRG_572:g.82501G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.951G>A	ENSP00000330021.7:p.Leu317=
ENST00000394236.9:c.951G>A MANE Select	ENSP00000377783.3:p.Leu317=
ENST00000407433.6:c.906G>A	ENSP00000385794.2:p.Leu302=
ENST00000647936.1:c.951G>A	ENSP00000496822.1:p.Leu317=
ENST00000648381.1:n.1119G>A
ENST00000648853.1:c.909G>A	ENSP00000497262.1:p.Leu303=
ENST00000649103.1:c.1050G>A	ENSP00000497962.1:n.1050G>A
ENST00000650591.1:c.1047G>A	ENSP00000497376.1:p.Leu349=
ENST00000394236.7:c.951G>A	ENSP00000377783.3:p.Leu317=
ENST00000407433.5:c.558G>A	ENSP00000385794.1:p.Leu186=
NM_000313.3:c.951G>A , LRG_572t1:c.951G>A	NP_000304.2:p.Leu317=
NM_001314077.1:c.1047G>A , LRG_572t2:c.1047G>A	NP_001301006.1:p.Leu349=
NM_000313.4:c.951G>A MANE Select	NP_000304.2:p.Leu317=
NM_001314077.2:c.1047G>A	NP_001301006.1:p.Leu349=