Canonical Allele Identifier: CA353672305
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93893039A>C , CM000665.2:g.93893039A>C GRCh38
NC_000003.11:g.93611883A>C , CM000665.1:g.93611883A>C GRCh37
NC_000003.10:g.95094573A>C NCBI36
NG_009813.1:g.86052T>G , LRG_572:g.86052T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.1049T>G ENSP00000330021.7:p.Leu350Arg
ENST00000394236.9:c.1049T>G MANE Select ENSP00000377783.3:p.Leu350Arg
ENST00000407433.6:c.1004T>G ENSP00000385794.2:p.Leu335Arg
ENST00000647936.1:c.1049T>G ENSP00000496822.1:p.Leu350Arg
ENST00000648381.1:n.1217T>G
ENST00000648853.1:c.1007T>G ENSP00000497262.1:p.Leu336Arg
ENST00000649103.1:c.1148T>G ENSP00000497962.1:n.1148T>G
ENST00000650591.1:c.1145T>G ENSP00000497376.1:p.Leu382Arg
ENST00000394236.7:c.1049T>G ENSP00000377783.3:p.Leu350Arg
ENST00000407433.5:c.656T>G ENSP00000385794.1:p.Leu219Arg
NM_000313.3:c.1049T>G , LRG_572t1:c.1049T>G NP_000304.2:p.Leu350Arg
NM_001314077.1:c.1145T>G , LRG_572t2:c.1145T>G NP_001301006.1:p.Leu382Arg
NM_000313.4:c.1049T>G MANE Select NP_000304.2:p.Leu350Arg
NM_001314077.2:c.1145T>G NP_001301006.1:p.Leu382Arg