Canonical Allele Identifier: CA353671034

Gene: PROS1

Linked Data

• MyVariant Identifiers: chr3:g.93595897T>G (hg19) ; chr3:g.93877053T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877053T>G , CM000665.2:g.93877053T>G	GRCh38
NC_000003.11:g.93595897T>G , CM000665.1:g.93595897T>G	GRCh37
NC_000003.10:g.95078587T>G	NCBI36
NG_009813.1:g.102038A>C , LRG_572:g.102038A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1783A>C	ENSP00000330021.7:p.Ile595Leu
ENST00000394236.9:c.1783A>C MANE Select	ENSP00000377783.3:p.Ile595Leu
ENST00000407433.6:c.1738A>C	ENSP00000385794.2:p.Ile580Leu
ENST00000647936.1:c.1644+2110A>C	ENSP00000496822.1:n.1644+2110A>C
ENST00000648381.1:n.1951A>C
ENST00000648853.1:c.1741A>C	ENSP00000497262.1:p.Ile581Leu
ENST00000649103.1:c.1882A>C	ENSP00000497962.1:n.1882A>C
ENST00000649585.1:c.726A>C	ENSP00000498163.1:n.726A>C
ENST00000650591.1:c.1879A>C	ENSP00000497376.1:p.Ile627Leu
ENST00000394236.7:c.1783A>C	ENSP00000377783.3:p.Ile595Leu
ENST00000407433.5:c.1390A>C	ENSP00000385794.1:p.Ile464Leu
NM_000313.3:c.1783A>C , LRG_572t1:c.1783A>C	NP_000304.2:p.Ile595Leu
NM_001314077.1:c.1879A>C , LRG_572t2:c.1879A>C	NP_001301006.1:p.Ile627Leu
NM_000313.4:c.1783A>C MANE Select	NP_000304.2:p.Ile595Leu
NM_001314077.2:c.1879A>C	NP_001301006.1:p.Ile627Leu