Canonical Allele Identifier: CA353672304
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93893037G>T , CM000665.2:g.93893037G>T GRCh38
NC_000003.11:g.93611881G>T , CM000665.1:g.93611881G>T GRCh37
NC_000003.10:g.95094571G>T NCBI36
NG_009813.1:g.86054C>A , LRG_572:g.86054C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1051C>A ENSP00000330021.7:p.Leu351Met
ENST00000394236.9:c.1051C>A MANE Select ENSP00000377783.3:p.Leu351Met
ENST00000407433.6:c.1006C>A ENSP00000385794.2:p.Leu336Met
ENST00000647936.1:c.1051C>A ENSP00000496822.1:p.Leu351Met
ENST00000648381.1:n.1219C>A
ENST00000648853.1:c.1009C>A ENSP00000497262.1:p.Leu337Met
ENST00000649103.1:c.1150C>A ENSP00000497962.1:n.1150C>A
ENST00000650591.1:c.1147C>A ENSP00000497376.1:p.Leu383Met
ENST00000394236.7:c.1051C>A ENSP00000377783.3:p.Leu351Met
ENST00000407433.5:c.658C>A ENSP00000385794.1:p.Leu220Met
NM_000313.3:c.1051C>A , LRG_572t1:c.1051C>A NP_000304.2:p.Leu351Met
NM_001314077.1:c.1147C>A , LRG_572t2:c.1147C>A NP_001301006.1:p.Leu383Met
NM_000313.4:c.1051C>A MANE Select NP_000304.2:p.Leu351Met
NM_001314077.2:c.1147C>A NP_001301006.1:p.Leu383Met