Canonical Allele Identifier: CA353669451
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874276G>C , CM000665.2:g.93874276G>C GRCh38
NC_000003.11:g.93593120G>C , CM000665.1:g.93593120G>C GRCh37
NC_000003.10:g.95075810G>C NCBI36
NG_009813.1:g.104815C>G , LRG_572:g.104815C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.2000C>G ENSP00000330021.7:p.Pro667Arg
ENST00000394236.9:c.2000C>G MANE Select ENSP00000377783.3:p.Pro667Arg
ENST00000407433.6:c.1955C>G ENSP00000385794.2:p.Pro652Arg
ENST00000647936.1:c.*103C>G ENSP00000496822.1:n.*103C>G
ENST00000648381.1:n.2168C>G
ENST00000648853.1:c.1958C>G ENSP00000497262.1:p.Pro653Arg
ENST00000650591.1:c.2096C>G ENSP00000497376.1:p.Pro699Arg
ENST00000394236.7:c.2000C>G ENSP00000377783.3:p.Pro667Arg
ENST00000407433.5:c.1607C>G ENSP00000385794.1:p.Pro536Arg
NM_000313.3:c.2000C>G , LRG_572t1:c.2000C>G NP_000304.2:p.Pro667Arg
NM_001314077.1:c.2096C>G , LRG_572t2:c.2096C>G NP_001301006.1:p.Pro699Arg
NM_000313.4:c.2000C>G MANE Select NP_000304.2:p.Pro667Arg
NM_001314077.2:c.2096C>G NP_001301006.1:p.Pro699Arg