Canonical Allele Identifier: CA353672535

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93615434C>G (hg19) ; chr3:g.93896590C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896590C>G , CM000665.2:g.93896590C>G	GRCh38
NC_000003.11:g.93615434C>G , CM000665.1:g.93615434C>G	GRCh37
NC_000003.10:g.95098124C>G	NCBI36
NG_009813.1:g.82501G>C , LRG_572:g.82501G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.951G>C	ENSP00000330021.7:p.Leu317Phe
ENST00000394236.9:c.951G>C MANE Select	ENSP00000377783.3:p.Leu317Phe
ENST00000407433.6:c.906G>C	ENSP00000385794.2:p.Leu302Phe
ENST00000647936.1:c.951G>C	ENSP00000496822.1:p.Leu317Phe
ENST00000648381.1:n.1119G>C
ENST00000648853.1:c.909G>C	ENSP00000497262.1:p.Leu303Phe
ENST00000649103.1:c.1050G>C	ENSP00000497962.1:n.1050G>C
ENST00000650591.1:c.1047G>C	ENSP00000497376.1:p.Leu349Phe
ENST00000394236.7:c.951G>C	ENSP00000377783.3:p.Leu317Phe
ENST00000407433.5:c.558G>C	ENSP00000385794.1:p.Leu186Phe
NM_000313.3:c.951G>C , LRG_572t1:c.951G>C	NP_000304.2:p.Leu317Phe
NM_001314077.1:c.1047G>C , LRG_572t2:c.1047G>C	NP_001301006.1:p.Leu349Phe
NM_000313.4:c.951G>C MANE Select	NP_000304.2:p.Leu317Phe
NM_001314077.2:c.1047G>C	NP_001301006.1:p.Leu349Phe