Canonical Allele Identifier: CA353674598
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93927335T>A , CM000665.2:g.93927335T>A GRCh38
NC_000003.11:g.93646179T>A , CM000665.1:g.93646179T>A GRCh37
NC_000003.10:g.95128869T>A NCBI36
NG_009813.1:g.51756A>T , LRG_572:g.51756A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.149A>T ENSP00000330021.7:p.Lys50Ile
ENST00000394236.9:c.149A>T MANE Select ENSP00000377783.3:p.Lys50Ile
ENST00000407433.6:c.149A>T ENSP00000385794.2:p.Lys50Ile
ENST00000472684.2:c.-245A>T ENSP00000419616.2:n.-245A>T
ENST00000647936.1:c.149A>T ENSP00000496822.1:p.Lys50Ile
ENST00000648381.1:n.317A>T
ENST00000648853.1:c.107A>T ENSP00000497262.1:p.Lys36Ile
ENST00000649103.1:c.128A>T ENSP00000497962.1:p.Lys43Ile
ENST00000650591.1:c.245A>T ENSP00000497376.1:p.Lys82Ile
ENST00000348974.4:c.245A>T ENSP00000330021.6:p.Lys82Ile
ENST00000394236.7:c.149A>T ENSP00000377783.3:p.Lys50Ile
ENST00000407433.5:c.-245A>T ENSP00000385794.1:n.-245A>T
ENST00000472684.1:c.-245A>T ENSP00000419616.1:n.-245A>T
NM_000313.3:c.149A>T , LRG_572t1:c.149A>T NP_000304.2:p.Lys50Ile
NM_001314077.1:c.245A>T , LRG_572t2:c.245A>T NP_001301006.1:p.Lys82Ile
NM_000313.4:c.149A>T MANE Select NP_000304.2:p.Lys50Ile
NM_001314077.2:c.245A>T NP_001301006.1:p.Lys82Ile