Canonical Allele Identifier: CA353670968

Gene: PROS1

Linked Data

• gnomAD v4: 3-93877035-G-A
• COSMIC: COSM3357755
• MyVariant Identifiers: chr3:g.93595879G>A (hg19) ; chr3:g.93877035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877035G>A , CM000665.2:g.93877035G>A	GRCh38
NC_000003.11:g.93595879G>A , CM000665.1:g.93595879G>A	GRCh37
NC_000003.10:g.95078569G>A	NCBI36
NG_009813.1:g.102056C>T , LRG_572:g.102056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1801C>T	ENSP00000330021.7:p.Gln601Ter
ENST00000394236.9:c.1801C>T MANE Select	ENSP00000377783.3:p.Gln601Ter
ENST00000407433.6:c.1756C>T	ENSP00000385794.2:p.Gln586Ter
ENST00000647936.1:c.1644+2128C>T	ENSP00000496822.1:n.1644+2128C>T
ENST00000648381.1:n.1969C>T
ENST00000648853.1:c.1759C>T	ENSP00000497262.1:p.Gln587Ter
ENST00000649585.1:c.744C>T	ENSP00000498163.1:n.744C>T
ENST00000650591.1:c.1897C>T	ENSP00000497376.1:p.Gln633Ter
ENST00000394236.7:c.1801C>T	ENSP00000377783.3:p.Gln601Ter
ENST00000407433.5:c.1408C>T	ENSP00000385794.1:p.Gln470Ter
NM_000313.3:c.1801C>T , LRG_572t1:c.1801C>T	NP_000304.2:p.Gln601Ter
NM_001314077.1:c.1897C>T , LRG_572t2:c.1897C>T	NP_001301006.1:p.Gln633Ter
NM_000313.4:c.1801C>T MANE Select	NP_000304.2:p.Gln601Ter
NM_001314077.2:c.1897C>T	NP_001301006.1:p.Gln633Ter