Canonical Allele Identifier: CA353672930

Gene: PROS1

Linked Data

• gnomAD v4: 3-93898519-G-T
• COSMIC: COSM3824703
• MyVariant Identifiers: chr3:g.93617363G>T (hg19) ; chr3:g.93898519G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93898519G>T , CM000665.2:g.93898519G>T	GRCh38
NC_000003.11:g.93617363G>T , CM000665.1:g.93617363G>T	GRCh37
NC_000003.10:g.95100053G>T	NCBI36
NG_009813.1:g.80572C>A , LRG_572:g.80572C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.778C>A	ENSP00000330021.7:p.Pro260Thr
ENST00000394236.9:c.778C>A MANE Select	ENSP00000377783.3:p.Pro260Thr
ENST00000407433.6:c.733C>A	ENSP00000385794.2:p.Pro245Thr
ENST00000647936.1:c.778C>A	ENSP00000496822.1:p.Pro260Thr
ENST00000648381.1:n.946C>A
ENST00000648853.1:c.736C>A	ENSP00000497262.1:p.Pro246Thr
ENST00000649103.1:c.877C>A	ENSP00000497962.1:n.877C>A
ENST00000650591.1:c.874C>A	ENSP00000497376.1:p.Pro292Thr
ENST00000394236.7:c.778C>A	ENSP00000377783.3:p.Pro260Thr
ENST00000407433.5:c.385C>A	ENSP00000385794.1:p.Pro129Thr
NM_000313.3:c.778C>A , LRG_572t1:c.778C>A	NP_000304.2:p.Pro260Thr
NM_001314077.1:c.874C>A , LRG_572t2:c.874C>A	NP_001301006.1:p.Pro292Thr
NM_000313.4:c.778C>A MANE Select	NP_000304.2:p.Pro260Thr
NM_001314077.2:c.874C>A	NP_001301006.1:p.Pro292Thr