Canonical Allele Identifier: CA353672649

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93615487G>C (hg19) ; chr3:g.93896643G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896643G>C , CM000665.2:g.93896643G>C	GRCh38
NC_000003.11:g.93615487G>C , CM000665.1:g.93615487G>C	GRCh37
NC_000003.10:g.95098177G>C	NCBI36
NG_009813.1:g.82448C>G , LRG_572:g.82448C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.898C>G	ENSP00000330021.7:p.Leu300Val
ENST00000394236.9:c.898C>G MANE Select	ENSP00000377783.3:p.Leu300Val
ENST00000407433.6:c.853C>G	ENSP00000385794.2:p.Leu285Val
ENST00000647936.1:c.898C>G	ENSP00000496822.1:p.Leu300Val
ENST00000648381.1:n.1066C>G
ENST00000648853.1:c.856C>G	ENSP00000497262.1:p.Leu286Val
ENST00000649103.1:c.997C>G	ENSP00000497962.1:n.997C>G
ENST00000650591.1:c.994C>G	ENSP00000497376.1:p.Leu332Val
ENST00000394236.7:c.898C>G	ENSP00000377783.3:p.Leu300Val
ENST00000407433.5:c.505C>G	ENSP00000385794.1:p.Leu169Val
NM_000313.3:c.898C>G , LRG_572t1:c.898C>G	NP_000304.2:p.Leu300Val
NM_001314077.1:c.994C>G , LRG_572t2:c.994C>G	NP_001301006.1:p.Leu332Val
NM_000313.4:c.898C>G MANE Select	NP_000304.2:p.Leu300Val
NM_001314077.2:c.994C>G	NP_001301006.1:p.Leu332Val