Canonical Allele Identifier: CA353671929
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93879233G>A , CM000665.2:g.93879233G>A GRCh38
NC_000003.11:g.93598077G>A , CM000665.1:g.93598077G>A GRCh37
NC_000003.10:g.95080767G>A NCBI36
NG_009813.1:g.99858C>T , LRG_572:g.99858C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.1574C>T ENSP00000330021.7:p.Ala525Val
ENST00000394236.9:c.1574C>T MANE Select ENSP00000377783.3:p.Ala525Val
ENST00000407433.6:c.1529C>T ENSP00000385794.2:p.Ala510Val
ENST00000647936.1:c.1574C>T ENSP00000496822.1:p.Ala525Val
ENST00000648381.1:n.1742C>T
ENST00000648853.1:c.1532C>T ENSP00000497262.1:p.Ala511Val
ENST00000649103.1:c.1673C>T ENSP00000497962.1:n.1673C>T
ENST00000649585.1:c.517C>T ENSP00000498163.1:n.517C>T
ENST00000650591.1:c.1670C>T ENSP00000497376.1:p.Ala557Val
ENST00000394236.7:c.1574C>T ENSP00000377783.3:p.Ala525Val
ENST00000407433.5:c.1181C>T ENSP00000385794.1:p.Ala394Val
NM_000313.3:c.1574C>T , LRG_572t1:c.1574C>T NP_000304.2:p.Ala525Val
NM_001314077.1:c.1670C>T , LRG_572t2:c.1670C>T NP_001301006.1:p.Ala557Val
NM_000313.4:c.1574C>T MANE Select NP_000304.2:p.Ala525Val
NM_001314077.2:c.1670C>T NP_001301006.1:p.Ala557Val