Canonical Allele Identifier: CA353669833

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93593190T>G (hg19) ; chr3:g.93874346T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874346T>G , CM000665.2:g.93874346T>G	GRCh38
NC_000003.11:g.93593190T>G , CM000665.1:g.93593190T>G	GRCh37
NC_000003.10:g.95075880T>G	NCBI36
NG_009813.1:g.104745A>C , LRG_572:g.104745A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1930A>C	ENSP00000330021.7:p.Ile644Leu
ENST00000394236.9:c.1930A>C MANE Select	ENSP00000377783.3:p.Ile644Leu
ENST00000407433.6:c.1885A>C	ENSP00000385794.2:p.Ile629Leu
ENST00000647936.1:c.*33A>C	ENSP00000496822.1:n.*33A>C
ENST00000648381.1:n.2098A>C
ENST00000648853.1:c.1888A>C	ENSP00000497262.1:p.Ile630Leu
ENST00000650591.1:c.2026A>C	ENSP00000497376.1:p.Ile676Leu
ENST00000394236.7:c.1930A>C	ENSP00000377783.3:p.Ile644Leu
ENST00000407433.5:c.1537A>C	ENSP00000385794.1:p.Ile513Leu
NM_000313.3:c.1930A>C , LRG_572t1:c.1930A>C	NP_000304.2:p.Ile644Leu
NM_001314077.1:c.2026A>C , LRG_572t2:c.2026A>C	NP_001301006.1:p.Ile676Leu
NM_000313.4:c.1930A>C MANE Select	NP_000304.2:p.Ile644Leu
NM_001314077.2:c.2026A>C	NP_001301006.1:p.Ile676Leu