Canonical Allele Identifier: CA353672064
Gene: PROS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93879263C>A , CM000665.2:g.93879263C>A GRCh38
NC_000003.11:g.93598107C>A , CM000665.1:g.93598107C>A GRCh37
NC_000003.10:g.95080797C>A NCBI36
NG_009813.1:g.99828G>T , LRG_572:g.99828G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1544G>T ENSP00000330021.7:p.Arg515Leu
ENST00000394236.9:c.1544G>T MANE Select ENSP00000377783.3:p.Arg515Leu
ENST00000407433.6:c.1499G>T ENSP00000385794.2:p.Arg500Leu
ENST00000647936.1:c.1544G>T ENSP00000496822.1:p.Arg515Leu
ENST00000648381.1:n.1712G>T
ENST00000648853.1:c.1502G>T ENSP00000497262.1:p.Arg501Leu
ENST00000649103.1:c.1643G>T ENSP00000497962.1:n.1643G>T
ENST00000649585.1:c.487G>T ENSP00000498163.1:n.487G>T
ENST00000650591.1:c.1640G>T ENSP00000497376.1:p.Arg547Leu
ENST00000394236.7:c.1544G>T ENSP00000377783.3:p.Arg515Leu
ENST00000407433.5:c.1151G>T ENSP00000385794.1:p.Arg384Leu
NM_000313.3:c.1544G>T , LRG_572t1:c.1544G>T NP_000304.2:p.Arg515Leu
NM_001314077.1:c.1640G>T , LRG_572t2:c.1640G>T NP_001301006.1:p.Arg547Leu
NM_000313.4:c.1544G>T MANE Select NP_000304.2:p.Arg515Leu
NM_001314077.2:c.1640G>T NP_001301006.1:p.Arg547Leu