Canonical Allele Identifier: CA353672748
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896688C>G , CM000665.2:g.93896688C>G GRCh38
NC_000003.11:g.93615532C>G , CM000665.1:g.93615532C>G GRCh37
NC_000003.10:g.95098222C>G NCBI36
NG_009813.1:g.82403G>C , LRG_572:g.82403G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.853G>C ENSP00000330021.7:p.Val285Leu
ENST00000394236.9:c.853G>C MANE Select ENSP00000377783.3:p.Val285Leu
ENST00000407433.6:c.808G>C ENSP00000385794.2:p.Val270Leu
ENST00000647936.1:c.853G>C ENSP00000496822.1:p.Val285Leu
ENST00000648381.1:n.1021G>C
ENST00000648853.1:c.811G>C ENSP00000497262.1:p.Val271Leu
ENST00000649103.1:c.952G>C ENSP00000497962.1:n.952G>C
ENST00000650591.1:c.949G>C ENSP00000497376.1:p.Val317Leu
ENST00000394236.7:c.853G>C ENSP00000377783.3:p.Val285Leu
ENST00000407433.5:c.460G>C ENSP00000385794.1:p.Val154Leu
NM_000313.3:c.853G>C , LRG_572t1:c.853G>C NP_000304.2:p.Val285Leu
NM_001314077.1:c.949G>C , LRG_572t2:c.949G>C NP_001301006.1:p.Val317Leu
NM_000313.4:c.853G>C MANE Select NP_000304.2:p.Val285Leu
NM_001314077.2:c.949G>C NP_001301006.1:p.Val317Leu