Canonical Allele Identifier: CA353669707
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874324A>T , CM000665.2:g.93874324A>T GRCh38
NC_000003.11:g.93593168A>T , CM000665.1:g.93593168A>T GRCh37
NC_000003.10:g.95075858A>T NCBI36
NG_009813.1:g.104767T>A , LRG_572:g.104767T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1952T>A ENSP00000330021.7:p.Leu651Gln
ENST00000394236.9:c.1952T>A MANE Select ENSP00000377783.3:p.Leu651Gln
ENST00000407433.6:c.1907T>A ENSP00000385794.2:p.Leu636Gln
ENST00000647936.1:c.*55T>A ENSP00000496822.1:n.*55T>A
ENST00000648381.1:n.2120T>A
ENST00000648853.1:c.1910T>A ENSP00000497262.1:p.Leu637Gln
ENST00000650591.1:c.2048T>A ENSP00000497376.1:p.Leu683Gln
ENST00000394236.7:c.1952T>A ENSP00000377783.3:p.Leu651Gln
ENST00000407433.5:c.1559T>A ENSP00000385794.1:p.Leu520Gln
NM_000313.3:c.1952T>A , LRG_572t1:c.1952T>A NP_000304.2:p.Leu651Gln
NM_001314077.1:c.2048T>A , LRG_572t2:c.2048T>A NP_001301006.1:p.Leu683Gln
NM_000313.4:c.1952T>A MANE Select NP_000304.2:p.Leu651Gln
NM_001314077.2:c.2048T>A NP_001301006.1:p.Leu683Gln