Canonical Allele Identifier: CA353669919
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874355C>G , CM000665.2:g.93874355C>G GRCh38
NC_000003.11:g.93593199C>G , CM000665.1:g.93593199C>G GRCh37
NC_000003.10:g.95075889C>G NCBI36
NG_009813.1:g.104736G>C , LRG_572:g.104736G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1921G>C ENSP00000330021.7:p.Glu641Gln
ENST00000394236.9:c.1921G>C MANE Select ENSP00000377783.3:p.Glu641Gln
ENST00000407433.6:c.1876G>C ENSP00000385794.2:p.Glu626Gln
ENST00000647936.1:c.*24G>C ENSP00000496822.1:n.*24G>C
ENST00000648381.1:n.2089G>C
ENST00000648853.1:c.1879G>C ENSP00000497262.1:p.Glu627Gln
ENST00000650591.1:c.2017G>C ENSP00000497376.1:p.Glu673Gln
ENST00000394236.7:c.1921G>C ENSP00000377783.3:p.Glu641Gln
ENST00000407433.5:c.1528G>C ENSP00000385794.1:p.Glu510Gln
NM_000313.3:c.1921G>C , LRG_572t1:c.1921G>C NP_000304.2:p.Glu641Gln
NM_001314077.1:c.2017G>C , LRG_572t2:c.2017G>C NP_001301006.1:p.Glu673Gln
NM_000313.4:c.1921G>C MANE Select NP_000304.2:p.Glu641Gln
NM_001314077.2:c.2017G>C NP_001301006.1:p.Glu673Gln