Canonical Allele Identifier: CA353671101

Gene: PROS1

Linked Data

• dbSNP Id: rs1172971687
• gnomAD v2: 3-93595914-G-T
• gnomAD v3: 3-93877070-G-T
• gnomAD v4: 3-93877070-G-T
• MyVariant Identifiers: chr3:g.93595914G>T (hg19) ; chr3:g.93877070G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877070G>T , CM000665.2:g.93877070G>T	GRCh38
NC_000003.11:g.93595914G>T , CM000665.1:g.93595914G>T	GRCh37
NC_000003.10:g.95078604G>T	NCBI36
NG_009813.1:g.102021C>A , LRG_572:g.102021C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.1766C>A	ENSP00000330021.7:p.Pro589Gln
ENST00000394236.9:c.1766C>A MANE Select	ENSP00000377783.3:p.Pro589Gln
ENST00000407433.6:c.1721C>A	ENSP00000385794.2:p.Pro574Gln
ENST00000647936.1:c.1644+2093C>A	ENSP00000496822.1:n.1644+2093C>A
ENST00000648381.1:n.1934C>A
ENST00000648853.1:c.1724C>A	ENSP00000497262.1:p.Pro575Gln
ENST00000649103.1:c.1865C>A	ENSP00000497962.1:n.1865C>A
ENST00000649585.1:c.709C>A	ENSP00000498163.1:n.709C>A
ENST00000650591.1:c.1862C>A	ENSP00000497376.1:p.Pro621Gln
ENST00000394236.7:c.1766C>A	ENSP00000377783.3:p.Pro589Gln
ENST00000407433.5:c.1373C>A	ENSP00000385794.1:p.Pro458Gln
NM_000313.3:c.1766C>A , LRG_572t1:c.1766C>A	NP_000304.2:p.Pro589Gln
NM_001314077.1:c.1862C>A , LRG_572t2:c.1862C>A	NP_001301006.1:p.Pro621Gln
NM_000313.4:c.1766C>A MANE Select	NP_000304.2:p.Pro589Gln
NM_001314077.2:c.1862C>A	NP_001301006.1:p.Pro621Gln