Canonical Allele Identifier: CA353674606

Gene: PROS1

Linked Data

• gnomAD v4: 3-93927339-T-C
• COSMIC: COSM480617
• MyVariant Identifiers: chr3:g.93646183T>C (hg19) ; chr3:g.93927339T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927339T>C , CM000665.2:g.93927339T>C	GRCh38
NC_000003.11:g.93646183T>C , CM000665.1:g.93646183T>C	GRCh37
NC_000003.10:g.95128873T>C	NCBI36
NG_009813.1:g.51752A>G , LRG_572:g.51752A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.145A>G	ENSP00000330021.7:p.Thr49Ala
ENST00000394236.9:c.145A>G MANE Select	ENSP00000377783.3:p.Thr49Ala
ENST00000407433.6:c.145A>G	ENSP00000385794.2:p.Thr49Ala
ENST00000472684.2:c.-249A>G	ENSP00000419616.2:n.-249A>G
ENST00000647936.1:c.145A>G	ENSP00000496822.1:p.Thr49Ala
ENST00000648381.1:n.313A>G
ENST00000648853.1:c.103A>G	ENSP00000497262.1:p.Thr35Ala
ENST00000649103.1:c.124A>G	ENSP00000497962.1:p.Thr42Ala
ENST00000650591.1:c.241A>G	ENSP00000497376.1:p.Thr81Ala
ENST00000348974.4:c.241A>G	ENSP00000330021.6:p.Thr81Ala
ENST00000394236.7:c.145A>G	ENSP00000377783.3:p.Thr49Ala
ENST00000407433.5:c.-249A>G	ENSP00000385794.1:n.-249A>G
ENST00000472684.1:c.-249A>G	ENSP00000419616.1:n.-249A>G
NM_000313.3:c.145A>G , LRG_572t1:c.145A>G	NP_000304.2:p.Thr49Ala
NM_001314077.1:c.241A>G , LRG_572t2:c.241A>G	NP_001301006.1:p.Thr81Ala
NM_000313.4:c.145A>G MANE Select	NP_000304.2:p.Thr49Ala
NM_001314077.2:c.241A>G	NP_001301006.1:p.Thr81Ala