Canonical Allele Identifier: CA353672519
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896583T>G , CM000665.2:g.93896583T>G GRCh38
NC_000003.11:g.93615427T>G , CM000665.1:g.93615427T>G GRCh37
NC_000003.10:g.95098117T>G NCBI36
NG_009813.1:g.82508A>C , LRG_572:g.82508A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.958A>C ENSP00000330021.7:p.Ile320Leu
ENST00000394236.9:c.958A>C MANE Select ENSP00000377783.3:p.Ile320Leu
ENST00000407433.6:c.913A>C ENSP00000385794.2:p.Ile305Leu
ENST00000647936.1:c.958A>C ENSP00000496822.1:p.Ile320Leu
ENST00000648381.1:n.1126A>C
ENST00000648853.1:c.916A>C ENSP00000497262.1:p.Ile306Leu
ENST00000649103.1:c.1057A>C ENSP00000497962.1:n.1057A>C
ENST00000650591.1:c.1054A>C ENSP00000497376.1:p.Ile352Leu
ENST00000394236.7:c.958A>C ENSP00000377783.3:p.Ile320Leu
ENST00000407433.5:c.565A>C ENSP00000385794.1:p.Ile189Leu
NM_000313.3:c.958A>C , LRG_572t1:c.958A>C NP_000304.2:p.Ile320Leu
NM_001314077.1:c.1054A>C , LRG_572t2:c.1054A>C NP_001301006.1:p.Ile352Leu
NM_000313.4:c.958A>C MANE Select NP_000304.2:p.Ile320Leu
NM_001314077.2:c.1054A>C NP_001301006.1:p.Ile352Leu