Canonical Allele Identifier: CA353671065
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93877061A>G , CM000665.2:g.93877061A>G GRCh38
NC_000003.11:g.93595905A>G , CM000665.1:g.93595905A>G GRCh37
NC_000003.10:g.95078595A>G NCBI36
NG_009813.1:g.102030T>C , LRG_572:g.102030T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.1775T>C ENSP00000330021.7:p.Ile592Thr
ENST00000394236.9:c.1775T>C MANE Select ENSP00000377783.3:p.Ile592Thr
ENST00000407433.6:c.1730T>C ENSP00000385794.2:p.Ile577Thr
ENST00000647936.1:c.1644+2102T>C ENSP00000496822.1:n.1644+2102T>C
ENST00000648381.1:n.1943T>C
ENST00000648853.1:c.1733T>C ENSP00000497262.1:p.Ile578Thr
ENST00000649103.1:c.1874T>C ENSP00000497962.1:n.1874T>C
ENST00000649585.1:c.718T>C ENSP00000498163.1:n.718T>C
ENST00000650591.1:c.1871T>C ENSP00000497376.1:p.Ile624Thr
ENST00000394236.7:c.1775T>C ENSP00000377783.3:p.Ile592Thr
ENST00000407433.5:c.1382T>C ENSP00000385794.1:p.Ile461Thr
NM_000313.3:c.1775T>C , LRG_572t1:c.1775T>C NP_000304.2:p.Ile592Thr
NM_001314077.1:c.1871T>C , LRG_572t2:c.1871T>C NP_001301006.1:p.Ile624Thr
NM_000313.4:c.1775T>C MANE Select NP_000304.2:p.Ile592Thr
NM_001314077.2:c.1871T>C NP_001301006.1:p.Ile624Thr