Canonical Allele Identifier: CA353669475

Gene: PROS1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874280A>G , CM000665.2:g.93874280A>G	GRCh38
NC_000003.11:g.93593124A>G , CM000665.1:g.93593124A>G	GRCh37
NC_000003.10:g.95075814A>G	NCBI36
NG_009813.1:g.104811T>C , LRG_572:g.104811T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000313.4:c.1996T>C MANE Select	NP_000304.2:p.Cys666Arg
ENST00000394236.9:c.1996T>C MANE Select	ENSP00000377783.3:p.Cys666Arg
NM_000313.3:c.1996T>C , LRG_572t1:c.1996T>C	NP_000304.2:p.Cys666Arg
NM_001314077.1:c.2092T>C , LRG_572t2:c.2092T>C	NP_001301006.1:p.Cys698Arg
NM_001314077.2:c.2092T>C	NP_001301006.1:p.Cys698Arg
ENST00000348974.5:c.1996T>C	ENSP00000330021.7:p.Cys666Arg
ENST00000394236.7:c.1996T>C	ENSP00000377783.3:p.Cys666Arg
ENST00000407433.5:c.1603T>C	ENSP00000385794.1:p.Cys535Arg
ENST00000407433.6:c.1951T>C	ENSP00000385794.2:p.Cys651Arg
ENST00000647936.1:c.*99T>C	ENSP00000496822.1:n.*99T>C
ENST00000648381.1:n.2164T>C
ENST00000648853.1:c.1954T>C	ENSP00000497262.1:p.Cys652Arg
ENST00000650591.1:c.2092T>C	ENSP00000497376.1:p.Cys698Arg