Canonical Allele Identifier: CA353672314

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93611886C>A (hg19) ; chr3:g.93893042C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93893042C>A , CM000665.2:g.93893042C>A	GRCh38
NC_000003.11:g.93611886C>A , CM000665.1:g.93611886C>A	GRCh37
NC_000003.10:g.95094576C>A	NCBI36
NG_009813.1:g.86049G>T , LRG_572:g.86049G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1046G>T	ENSP00000330021.7:p.Trp349Leu
ENST00000394236.9:c.1046G>T MANE Select	ENSP00000377783.3:p.Trp349Leu
ENST00000407433.6:c.1001G>T	ENSP00000385794.2:p.Trp334Leu
ENST00000647936.1:c.1046G>T	ENSP00000496822.1:p.Trp349Leu
ENST00000648381.1:n.1214G>T
ENST00000648853.1:c.1004G>T	ENSP00000497262.1:p.Trp335Leu
ENST00000649103.1:c.1145G>T	ENSP00000497962.1:n.1145G>T
ENST00000650591.1:c.1142G>T	ENSP00000497376.1:p.Trp381Leu
ENST00000394236.7:c.1046G>T	ENSP00000377783.3:p.Trp349Leu
ENST00000407433.5:c.653G>T	ENSP00000385794.1:p.Trp218Leu
NM_000313.3:c.1046G>T , LRG_572t1:c.1046G>T	NP_000304.2:p.Trp349Leu
NM_001314077.1:c.1142G>T , LRG_572t2:c.1142G>T	NP_001301006.1:p.Trp381Leu
NM_000313.4:c.1046G>T MANE Select	NP_000304.2:p.Trp349Leu
NM_001314077.2:c.1142G>T	NP_001301006.1:p.Trp381Leu