Canonical Allele Identifier: CA353671447

Gene: PROS1

Linked Data

• gnomAD v4: 3-93877163-A-G
• MyVariant Identifiers: chr3:g.93596007A>G (hg19) ; chr3:g.93877163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877163A>G , CM000665.2:g.93877163A>G	GRCh38
NC_000003.11:g.93596007A>G , CM000665.1:g.93596007A>G	GRCh37
NC_000003.10:g.95078697A>G	NCBI36
NG_009813.1:g.101928T>C , LRG_572:g.101928T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.1673T>C	ENSP00000330021.7:p.Val558Ala
ENST00000394236.9:c.1673T>C MANE Select	ENSP00000377783.3:p.Val558Ala
ENST00000407433.6:c.1628T>C	ENSP00000385794.2:p.Val543Ala
ENST00000647936.1:c.1644+2000T>C	ENSP00000496822.1:n.1644+2000T>C
ENST00000648381.1:n.1841T>C
ENST00000648853.1:c.1631T>C	ENSP00000497262.1:p.Val544Ala
ENST00000649103.1:c.1772T>C	ENSP00000497962.1:n.1772T>C
ENST00000649585.1:c.616T>C	ENSP00000498163.1:n.616T>C
ENST00000650591.1:c.1769T>C	ENSP00000497376.1:p.Val590Ala
ENST00000394236.7:c.1673T>C	ENSP00000377783.3:p.Val558Ala
ENST00000407433.5:c.1280T>C	ENSP00000385794.1:p.Val427Ala
NM_000313.3:c.1673T>C , LRG_572t1:c.1673T>C	NP_000304.2:p.Val558Ala
NM_001314077.1:c.1769T>C , LRG_572t2:c.1769T>C	NP_001301006.1:p.Val590Ala
NM_000313.4:c.1673T>C MANE Select	NP_000304.2:p.Val558Ala
NM_001314077.2:c.1769T>C	NP_001301006.1:p.Val590Ala