Canonical Allele Identifier: CA353674614

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93646186C>G (hg19) ; chr3:g.93927342C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927342C>G , CM000665.2:g.93927342C>G	GRCh38
NC_000003.11:g.93646186C>G , CM000665.1:g.93646186C>G	GRCh37
NC_000003.10:g.95128876C>G	NCBI36
NG_009813.1:g.51749G>C , LRG_572:g.51749G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.142G>C	ENSP00000330021.7:p.Glu48Gln
ENST00000394236.9:c.142G>C MANE Select	ENSP00000377783.3:p.Glu48Gln
ENST00000407433.6:c.142G>C	ENSP00000385794.2:p.Glu48Gln
ENST00000472684.2:c.-252G>C	ENSP00000419616.2:n.-252G>C
ENST00000647936.1:c.142G>C	ENSP00000496822.1:p.Glu48Gln
ENST00000648381.1:n.310G>C
ENST00000648853.1:c.100G>C	ENSP00000497262.1:p.Glu34Gln
ENST00000649103.1:c.121G>C	ENSP00000497962.1:p.Glu41Gln
ENST00000650591.1:c.238G>C	ENSP00000497376.1:p.Glu80Gln
ENST00000348974.4:c.238G>C	ENSP00000330021.6:p.Glu80Gln
ENST00000394236.7:c.142G>C	ENSP00000377783.3:p.Glu48Gln
ENST00000407433.5:c.-252G>C	ENSP00000385794.1:n.-252G>C
ENST00000472684.1:c.-252G>C	ENSP00000419616.1:n.-252G>C
NM_000313.3:c.142G>C , LRG_572t1:c.142G>C	NP_000304.2:p.Glu48Gln
NM_001314077.1:c.238G>C , LRG_572t2:c.238G>C	NP_001301006.1:p.Glu80Gln
NM_000313.4:c.142G>C MANE Select	NP_000304.2:p.Glu48Gln
NM_001314077.2:c.238G>C	NP_001301006.1:p.Glu80Gln